114134[Gene ID] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58210	GRCh38/hg38 12q12(chr12:39651727-41240339)x3	CNTN1, LINC01779 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3164122	NM_052885.4(SLC2A13):c.1876T>C (p.Tyr626His)	REDIC1, SLC2A13 (Y626H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369626	NM_052885.4(SLC2A13):c.1739C>T (p.Ala580Val)	REDIC1, SLC2A13 (A580V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164120	NM_052885.4(SLC2A13):c.1681C>G (p.Leu561Val)	REDIC1, SLC2A13 (L561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164119	NM_052885.4(SLC2A13):c.1636G>T (p.Ala546Ser)	REDIC1, SLC2A13 (A546S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269816	NM_052885.4(SLC2A13):c.1613T>G (p.Leu538Arg)	REDIC1, SLC2A13 (L538R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408054	NM_052885.4(SLC2A13):c.1489G>A (p.Ala497Thr)	REDIC1, SLC2A13 (A497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164118	NM_052885.4(SLC2A13):c.1424C>T (p.Thr475Ile)	REDIC1, SLC2A13 (T475I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164117	NM_052885.4(SLC2A13):c.1372A>G (p.Asn458Asp)	REDIC1, SLC2A13 (N458D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164116	NM_052885.4(SLC2A13):c.1304C>T (p.Thr435Ile)	REDIC1, SLC2A13 (T435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164115	NM_052885.4(SLC2A13):c.1262G>A (p.Arg421His)	REDIC1, SLC2A13 (R421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151257	GRCh38/hg38 12q12(chr12:39934307-39976881)x1	SLC2A13	Copy number loss	See cases	GLikely benign
Select item 2547394	NM_052885.4(SLC2A13):c.982G>T (p.Val328Leu)	SLC2A13 (V328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164125	NM_052885.4(SLC2A13):c.968G>T (p.Arg323Leu)	SLC2A13 (R323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312720	NM_052885.4(SLC2A13):c.932C>A (p.Pro311His)	SLC2A13 (P311H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242628	NM_052885.4(SLC2A13):c.777G>T (p.Leu259Phe)	LOC126861504, SLC2A13 (L259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343888	NM_052885.4(SLC2A13):c.746C>G (p.Ala249Gly)	LOC126861504, SLC2A13 (A249G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218498	NM_052885.4(SLC2A13):c.695A>G (p.Tyr232Cys)	SLC2A13 (Y232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326348	NM_052885.4(SLC2A13):c.686C>G (p.Ala229Gly)	SLC2A13 (A229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604370	NM_052885.4(SLC2A13):c.649A>C (p.Thr217Pro)	SLC2A13 (T217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479883	NM_052885.4(SLC2A13):c.586A>G (p.Ile196Val)	SLC2A13 (I196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610426	NM_052885.4(SLC2A13):c.513G>C (p.Lys171Asn)	SLC2A13 (K171N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570023	NM_052885.4(SLC2A13):c.488C>T (p.Ala163Val)	SLC2A13 (A163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277832	NM_052885.4(SLC2A13):c.472T>C (p.Phe158Leu)	SLC2A13 (F158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340692	NM_052885.4(SLC2A13):c.419C>T (p.Ala140Val)	SLC2A13 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612251	NM_052885.4(SLC2A13):c.364C>G (p.Leu122Val)	SLC2A13 (L122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601193	NM_052885.4(SLC2A13):c.337C>T (p.Leu113Phe)	SLC2A13 (L113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601192	NM_052885.4(SLC2A13):c.336G>T (p.Gln112His)	SLC2A13 (Q112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363093	NM_052885.4(SLC2A13):c.329A>G (p.Lys110Arg)	SLC2A13 (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164121	NM_052885.4(SLC2A13):c.169G>A (p.Gly57Ser)	LOC130007683, SLC2A13 (G57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319364	NM_052885.4(SLC2A13):c.167C>T (p.Ala56Val)	LOC130007683, SLC2A13 (A56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507541	NM_052885.4(SLC2A13):c.157A>G (p.Ser53Gly)	LOC130007683, SLC2A13 (S53G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534580	NM_052885.4(SLC2A13):c.145A>G (p.Thr49Ala)	LOC130007683, SLC2A13 (T49A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321412	NM_052885.4(SLC2A13):c.75G>T (p.Arg25Ser)	LOC130007684, SLC2A13 (R25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2684670	GRCh37/hg19 12q12(chr12:39854510-40160131)x3	ABCD2, REDIC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1808397	GRCh37/hg19 12q12(chr12:39447728-40418470)x3	ABCD2, C12orf40 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807787	GRCh37/hg19 12q12(chr12:40272679-40452284)x1	SLC2A13	Copy number loss	not provided	GUncertain significance
Select item 1527705	GRCh37/hg19 12q12(chr12:40213704-40774519)	LRRK2, SLC2A13	Copy number gain	not specified	GUncertain significance
Select item 1527704	GRCh37/hg19 12q12(chr12:39598809-41141181)	ABCD2, C12orf40 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979963	GRCh37/hg19 12q12(chr12:40476826-41337435)x3	LRRK2, SLC2A13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979960	GRCh37/hg19 12q12(chr12:39078754-40577696)x4	CPNE8, C12orf40 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815520	GRCh37/hg19 12q12(chr12:40250496-40313865)x1	SLC2A13	Copy number loss	not provided	GUncertain significance
Select item 815519	GRCh37/hg19 12q12(chr12:39580744-42470754)x3	CNTN1, ABCD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687619	GRCh37/hg19 12q12(chr12:39577315-40582797)x1	ABCD2, C12orf40 +2 more	Copy number loss	not provided	GPathogenic
Select item 560125	Single allele	CNTN1, GXYLT1 +8 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441613	GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3	ALG10B, CNTN1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 57