KLF7[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 59163	GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3	ADAM23, CPO +17 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	KANSL1L, KANSL1L-AS1 +96 more	Copy number loss	See cases	GPathogenic
Select item 1703069	NM_003709.4(KLF7):c.858-4C>T	KLF7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 778017	NM_003709.4(KLF7):c.798C>T (p.Leu266=)	KLF7 (S199L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 374233	NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)	KLF7 (D264N +2 more)	Single nucleotide variant (synonymous variant +2 more)	Neurodevelopmental disorder +3 more	GPathogenic/Likely pathogenic
Select item 2530504	NM_003709.4(KLF7):c.622G>T (p.Ala208Ser)	KLF7 (A180S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499350	NM_003709.4(KLF7):c.620G>T (p.Gly207Val)	KLF7 (G174V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2278844	NM_003709.4(KLF7):c.566C>T (p.Thr189Met)	KLF7 (T156M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 871305	NM_003709.4(KLF7):c.487A>C (p.Thr163Pro)	KLF7 (T130P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351965	NM_003709.4(KLF7):c.437G>A (p.Arg146His)	KLF7 (R146H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708773	NM_003709.4(KLF7):c.425C>T (p.Pro142Leu)	KLF7 (P109L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2270728	NM_003709.4(KLF7):c.424C>A (p.Pro142Thr)	KLF7 (P114T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986255	NM_003709.4(KLF7):c.410C>T (p.Thr137Met)	KLF7 (T104M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2637281	NM_003709.4(KLF7):c.398T>G (p.Val133Gly)	KLF7 (V100G +2 more)	Single nucleotide variant (missense variant)	KLF7-related condition	GUncertain significance
Select item 3053114	NM_003709.4(KLF7):c.393C>T (p.Asn131=)	KLF7	Single nucleotide variant (synonymous variant)	KLF7-related condition	GLikely benign
Select item 3051378	NM_003709.4(KLF7):c.372C>T (p.Ala124=)	KLF7	Single nucleotide variant (synonymous variant)	KLF7-related condition	GLikely benign
Select item 2272058	NM_003709.4(KLF7):c.328C>T (p.Leu110Phe)	KLF7 (L82F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343087	NM_003709.4(KLF7):c.302G>A (p.Arg101Gln)	KLF7 (R101Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710574	NM_003709.4(KLF7):c.287A>C (p.Asp96Ala)	KLF7 (D63A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619091	NM_003709.4(KLF7):c.266G>A (p.Cys89Tyr)	KLF7 (C89Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789158	NM_003709.4(KLF7):c.246C>T (p.Leu82=)	KLF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2571724	NM_003709.4(KLF7):c.231A>C (p.Leu77Phe)	KLF7 (L44F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212858	NM_003709.4(KLF7):c.209T>C (p.Ile70Thr)	KLF7 (I70T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738810	NM_003709.4(KLF7):c.204G>A (p.Pro68=)	KLF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041596	NM_003709.4(KLF7):c.171C>T (p.Asp57=)	KLF7	Single nucleotide variant (synonymous variant)	KLF7-related condition	GBenign
Select item 1708646	NM_003709.4(KLF7):c.161T>G (p.Phe54Cys)	KLF7 (F21C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582018	NM_003709.4(KLF7):c.154G>A (p.Glu52Lys)	KLF7 (E19K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3059981	NM_003709.4(KLF7):c.103-9672G>A	KLF7	Single nucleotide variant (synonymous variant +1 more)	KLF7-related condition	GBenign
Select item 1325587	NM_001270943.2(KLF7):c.3+1G>T	KLF7	Single nucleotide variant (splice donor variant)	See cases	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ADAM23, CPO +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 55