AHR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC123924901, LOC123924902 +331 more	Copy number loss	See cases	GPathogenic
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	LOC129998080, LOC129998081 +248 more	Copy number loss	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 146209	GRCh38/hg38 7p21.1(chr7:16838053-17663993)x3	AGR3, AHR +16 more	Copy number gain	See cases	GUncertain significance
Select item 59568	GRCh38/hg38 7p21.1(chr7:16838053-17672667)x3	AGR3, AHR +16 more	Copy number gain	See cases	GUncertain significance
Select item 150094	GRCh38/hg38 7p21.1(chr7:16925050-17334072)x3	AHR, LOC123924912 +8 more	Copy number gain	See cases	GLikely benign
Select item 59569	GRCh38/hg38 7p21.1(chr7:17034713-17544671)x3	AHR, LINC02888 +11 more	Copy number gain	See cases	GUncertain significance
Select item 59570	GRCh38/hg38 7p21.1(chr7:17183146-17612077)x3	AHR, LINC02888 +10 more	Copy number gain	See cases	GUncertain significance
Select item 149095	GRCh38/hg38 7p21.1(chr7:17198359-17893255)x3	AHR, LINC02888 +13 more	Copy number gain	See cases	GUncertain significance
Select item 147798	GRCh38/hg38 7p21.1(chr7:17214494-17893255)x3	AHR, LINC02888 +13 more	Copy number gain	See cases	GUncertain significance
Select item 147424	GRCh38/hg38 7p21.1(chr7:17214494-18000678)x3	AHR, LINC02888 +13 more	Copy number gain	See cases	GUncertain significance
Select item 151570	GRCh38/hg38 7p21.1(chr7:17238688-17474079)x3	AHR, LINC02888 +6 more	Copy number gain	See cases	GBenign
Select item 2112674	NM_001621.5(AHR):c.1A>G (p.Met1Val)	AHR (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1036768	NM_001621.5(AHR):c.7A>G (p.Ser3Gly)	AHR (S3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124089	NM_001621.5(AHR):c.8G>C (p.Ser3Thr)	AHR (S3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499316	NM_001621.5(AHR):c.20A>G (p.Asn7Ser)	AHR, LOC129998012 (N7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371787	NM_001621.5(AHR):c.35G>A (p.Ser12Asn)	AHR, LOC129998012 (S12N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489685	NM_001621.5(AHR):c.38G>T (p.Arg13Leu)	AHR, LOC129998012 (R13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572685	NM_001621.5(AHR):c.51G>A (p.Lys17=)	AHR, LOC129998012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517960	NM_001621.5(AHR):c.64A>T (p.Thr22Ser)	AHR (T22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022836	NM_001621.5(AHR):c.65+14_65+15delinsTT	AHR	Indel (intron variant)	not provided	GUncertain significance
Select item 1533851	NM_001621.5(AHR):c.65+14G>A	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088815	NM_001621.5(AHR):c.65+17C>T	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795063	NM_001621.5(AHR):c.66-9_66-6del	AHR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2032483	NM_001621.5(AHR):c.66-13G>A	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182105	NM_001621.5(AHR):c.74C>A (p.Pro25Gln)	AHR (P25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609520	NM_001621.5(AHR):c.75A>C (p.Pro25=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487253	NM_001621.5(AHR):c.104C>T (p.Pro35Leu)	AHR (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1661036	NM_001621.5(AHR):c.108C>G (p.Ser36=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114622	NM_001621.5(AHR):c.111G>A (p.Lys37=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106854	NM_001621.5(AHR):c.112C>A (p.Arg38=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111362	NM_001621.5(AHR):c.114G>A (p.Arg38=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015788	NM_001621.5(AHR):c.124C>A (p.Arg42=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166758	NM_001621.5(AHR):c.132T>C (p.Asn44=)	AHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 962335	NM_001621.5(AHR):c.134C>T (p.Thr45Ile)	AHR (T45I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937920	NM_001621.5(AHR):c.145C>T (p.Arg49Cys)	AHR (R49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488892	NM_001621.5(AHR):c.146G>A (p.Arg49His)	AHR (R49H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1122672	NM_001621.5(AHR):c.150G>A (p.Leu50=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395230	NM_001621.5(AHR):c.169C>G (p.Pro57Ala)	AHR (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476799	NM_001621.5(AHR):c.197A>G (p.Lys66Arg)	AHR (K66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1122452	NM_001621.5(AHR):c.204A>G (p.Ser68=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507037	NM_001621.5(AHR):c.205G>A (p.Val69Ile)	AHR (V69I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976701	NM_001621.5(AHR):c.213G>A (p.Arg71=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081314	NM_001621.5(AHR):c.219C>T (p.Ser73=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 845384	NM_001621.5(AHR):c.220G>A (p.Val74Ile)	AHR (V74I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944380	NM_001621.5(AHR):c.239A>G (p.Lys80Arg)	AHR (K80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128518	NM_001621.5(AHR):c.253+5G>A	AHR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2108465	NM_001621.5(AHR):c.253+8A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636144	NM_001621.5(AHR):c.253+11del	AHR	Deletion (intron variant)	not provided	GLikely benign
Select item 2037370	NM_001621.5(AHR):c.253+17T>C	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023859	NM_001621.5(AHR):c.253+18A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910430	NM_001621.5(AHR):c.253+19A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164236	NM_001621.5(AHR):c.254-7dup	AHR	Duplication (intron variant)	not provided	GBenign
Select item 1911392	NM_001621.5(AHR):c.254-7del	AHR	Deletion (intron variant)	not provided	GBenign
Select item 1649801	NM_001621.5(AHR):c.254-12T>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2618530	NM_001621.5(AHR):c.257C>T (p.Ala86Val)	AHR (A86V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2848283	NM_001621.5(AHR):c.258A>T (p.Ala86=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168505	NM_001621.5(AHR):c.258A>G (p.Ala86=)	AHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1376641	NM_001621.5(AHR):c.269C>T (p.Ser90Phe)	AHR (S90F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1127867	NM_001621.5(AHR):c.270C>T (p.Ser90=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415901	NM_001621.5(AHR):c.271C>A (p.Pro91Thr)	AHR (P91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468038	NM_001621.5(AHR):c.278A>G (p.Glu93Gly)	AHR (E93G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533921	NM_001621.5(AHR):c.279A>G (p.Glu93=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375833	NM_001621.5(AHR):c.283A>G (p.Asn95Asp)	AHR (N95D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650871	NM_001621.5(AHR):c.285C>T (p.Asn95=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499828	NM_001621.5(AHR):c.286G>A (p.Gly96Arg)	AHR (G96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426973	NM_001621.5(AHR):c.296A>T (p.Asp99Val)	AHR (D99V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919215	NM_001621.5(AHR):c.303T>C (p.Cys101=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955009	NM_001621.5(AHR):c.304A>G (p.Arg102Gly)	AHR (R102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917108	NM_001621.5(AHR):c.307G>A (p.Ala103Thr)	AHR (A103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646428	NM_001621.5(AHR):c.312A>C (p.Ala104=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 933821	NM_001621.5(AHR):c.320G>T (p.Arg107Ile)	AHR (R107I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048182	NM_001621.5(AHR):c.324A>T (p.Glu108Asp)	AHR (E108D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347487	NM_001621.5(AHR):c.326G>A (p.Gly109Asp)	AHR (G109D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005812	NM_001621.5(AHR):c.326G>T (p.Gly109Val)	AHR (G109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2279238	NM_001621.5(AHR):c.329T>G (p.Leu110Arg)	AHR (L110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1116951	NM_001621.5(AHR):c.336A>G (p.Leu112=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 943707	NM_001621.5(AHR):c.339A>T (p.Gln113His)	AHR (Q113H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932221	NM_001621.5(AHR):c.350T>A (p.Phe117Tyr)	AHR (F117Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013843	NM_001621.5(AHR):c.355T>C (p.Leu119=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552453	NM_001621.5(AHR):c.360+13A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864731	NM_001621.5(AHR):c.360+16T>C	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556175	NM_001621.5(AHR):c.361-18A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1447024	NM_001621.5(AHR):c.361-8C>A	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724009	NM_001621.5(AHR):c.361-4G>A	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 934093	NM_001621.5(AHR):c.392C>T (p.Thr131Ile)	AHR (T131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060326	NM_001621.5(AHR):c.398C>A (p.Ala133Asp)	AHR (A133D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898525	NM_001621.5(AHR):c.419C>G (p.Ser140Cys)	AHR (S140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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