ClinVar for Gene (Select 283461) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2408054	NM_052885.4(SLC2A13):c.1489G>A (p.Ala497Thr)	REDIC1, SLC2A13 (A497T)	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 2288737	NM_001031748.4(REDIC1):c.782C>G (p.Thr261Ser)	REDIC1 (T261S +1 more)	Single nucleotide variant (missense variant +1 more)	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 2257304	NM_001031748.4(REDIC1):c.1139A>C (p.Glu380Ala)	REDIC1 (E303A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255489	NM_001031748.4(REDIC1):c.435A>G (p.Ile145Met)	REDIC1 (I145M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223943	NM_001031748.4(REDIC1):c.571C>T (p.Arg191Cys)	REDIC1 (R191C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 1727243	NM_001031748.4(REDIC1):c.233_234insTT (p.Met78fs)	REDIC1 (M78fs)	Insertion (frameshift variant +1 more)	Spermatogenic Failure	GPathogenic
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 979960	GRCh37/hg19 12q12(chr12:39078754-40577696)x4	CPNE8, C12orf40 +3 more	Copy number gain	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 563977	GRCh37/hg19 12q12(chr12:38207168-40145174)x1	C12orf40, ABCD2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 563955	GRCh37/hg19 12q12(chr12:39452850-40084260)x3	KIF21A, C12orf40 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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	GALNT8, H2AJ +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
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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

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Links from Gene

Items: 36