ClinVar for Gene (Select 100132111) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325888	NM_182578.4(THEM5):c.689C>A (p.Ala230Asp)	C2CD4D-AS1, THEM5 (A230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262482	NM_001394591.1(C2CD4D):c.553C>A (p.Arg185Ser)	C2CD4D, C2CD4D-AS1 +1 more (R185S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3262481	NM_001394591.1(C2CD4D):c.536C>G (p.Thr179Ser)	C2CD4D, C2CD4D-AS1 +1 more (T179S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3177019	NM_182578.4(THEM5):c.343A>T (p.Ile115Phe)	C2CD4D-AS1, THEM5 (I115F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135909	NM_001394591.1(C2CD4D):c.85C>T (p.Arg29Cys)	C2CD4D, C2CD4D-AS1 (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135907	NM_001394591.1(C2CD4D):c.439G>A (p.Asp147Asn)	C2CD4D, C2CD4D-AS1 +1 more (D147N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135906	NM_001394591.1(C2CD4D):c.122A>G (p.Asn41Ser)	C2CD4D, C2CD4D-AS1 (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639182	NM_182578.4(THEM5):c.*89CCTGCCTGCCTCCTGCCTCC[1]	C2CD4D-AS1, THEM5	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2621394	NM_182578.4(THEM5):c.431T>C (p.Phe144Ser)	C2CD4D-AS1, THEM5 (F144S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2607591	NM_001394591.1(C2CD4D):c.350G>A (p.Gly117Glu)	C2CD4D, C2CD4D-AS1 (G117E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591886	NM_001394591.1(C2CD4D):c.443C>T (p.Ser148Leu)	C2CD4D, C2CD4D-AS1 +1 more (S148L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547699	NM_182578.4(THEM5):c.701G>A (p.Gly234Asp)	C2CD4D-AS1, THEM5 (G234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536985	NM_001394591.1(C2CD4D):c.575C>T (p.Pro192Leu)	C2CD4D, C2CD4D-AS1 +1 more (P192L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531466	NM_001394591.1(C2CD4D):c.554G>A (p.Arg185His)	C2CD4D, C2CD4D-AS1 +1 more (R185H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519433	NM_182578.4(THEM5):c.610G>A (p.Val204Ile)	C2CD4D-AS1, THEM5 (V204I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469129	NM_001394591.1(C2CD4D):c.136G>A (p.Asp46Asn)	C2CD4D, C2CD4D-AS1 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465668	NM_182578.4(THEM5):c.658G>A (p.Ala220Thr)	C2CD4D-AS1, THEM5 (A220T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411153	NM_001394591.1(C2CD4D):c.461C>A (p.Pro154Gln)	C2CD4D, C2CD4D-AS1 +1 more (P154Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2409179	NM_182578.4(THEM5):c.493A>G (p.Met165Val)	C2CD4D-AS1, THEM5 (M165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388950	NM_001394591.1(C2CD4D):c.649C>T (p.Arg217Cys)	C2CD4D, C2CD4D-AS1 (R217C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379576	NM_001394591.1(C2CD4D):c.452T>C (p.Phe151Ser)	C2CD4D, C2CD4D-AS1 +1 more (F151S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350472	NM_001394591.1(C2CD4D):c.314C>T (p.Ser105Phe)	C2CD4D, C2CD4D-AS1 +1 more (S105F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345417	NM_001394591.1(C2CD4D):c.346G>A (p.Gly116Arg)	C2CD4D, C2CD4D-AS1 (G116R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319790	NM_001394591.1(C2CD4D):c.172C>T (p.Pro58Ser)	C2CD4D, C2CD4D-AS1 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319658	NM_001394591.1(C2CD4D):c.505C>G (p.Leu169Val)	C2CD4D, C2CD4D-AS1 +1 more (L169V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303142	NM_182578.4(THEM5):c.643T>G (p.Tyr215Asp)	C2CD4D-AS1, THEM5 (Y215D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281873	NM_001394591.1(C2CD4D):c.91G>T (p.Ala31Ser)	C2CD4D, C2CD4D-AS1 (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277106	NM_182578.4(THEM5):c.719A>T (p.Gln240Leu)	C2CD4D-AS1, THEM5 (Q240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252895	NM_182578.4(THEM5):c.472C>T (p.His158Tyr)	C2CD4D-AS1, THEM5 (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240142	NM_001394591.1(C2CD4D):c.232G>A (p.Ala78Thr)	C2CD4D, C2CD4D-AS1 +1 more (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236922	NM_182578.4(THEM5):c.475G>A (p.Gly159Ser)	C2CD4D-AS1, THEM5 (G159S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226021	NM_001394591.1(C2CD4D):c.329C>T (p.Pro110Leu)	C2CD4D, C2CD4D-AS1 (P110L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2216692	NM_182578.4(THEM5):c.329A>G (p.Lys110Arg)	C2CD4D-AS1, THEM5 (K110R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34