ClinVar for Gene (Select 112849) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289808	NM_144581.2(L3HYPDH):c.929A>G (p.Lys310Arg)	L3HYPDH (K139R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289807	NM_144581.2(L3HYPDH):c.770C>T (p.Thr257Ile)	L3HYPDH (T257I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287194	NM_016475.5(JKAMP):c.617A>G (p.Gln206Arg)	JKAMP, L3HYPDH (Q214R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287193	NM_016475.5(JKAMP):c.352C>T (p.Arg118Cys)	JKAMP, L3HYPDH (R55C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117246	NM_144581.2(L3HYPDH):c.908C>G (p.Thr303Ser)	L3HYPDH (T132S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117245	NM_144581.2(L3HYPDH):c.844G>A (p.Ala282Thr)	L3HYPDH (A111T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117244	NM_144581.2(L3HYPDH):c.557C>A (p.Ala186Glu)	L3HYPDH (A15E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117243	NM_144581.2(L3HYPDH):c.491C>T (p.Ala164Val)	L3HYPDH (A164V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117241	NM_144581.2(L3HYPDH):c.472C>T (p.Arg158Cys)	L3HYPDH (R158C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117240	NM_144581.2(L3HYPDH):c.428C>T (p.Thr143Ile)	L3HYPDH (T143I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117239	NM_144581.2(L3HYPDH):c.257C>G (p.Pro86Arg)	L3HYPDH (P86R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117237	NM_144581.2(L3HYPDH):c.223A>C (p.Met75Leu)	L3HYPDH (M75L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117236	NM_144581.2(L3HYPDH):c.196A>C (p.Met66Leu)	L3HYPDH (M66L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117235	NM_144581.2(L3HYPDH):c.1033G>C (p.Asp345His)	L3HYPDH (D174H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112320	NM_016475.5(JKAMP):c.895G>A (p.Glu299Lys)	JKAMP, L3HYPDH (E313K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112319	NM_016475.5(JKAMP):c.646G>A (p.Ala216Thr)	JKAMP, L3HYPDH (A216T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112318	NM_016475.5(JKAMP):c.35T>G (p.Leu12Arg)	JKAMP, L3HYPDH (L12R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112317	NM_016475.5(JKAMP):c.353G>A (p.Arg118His)	JKAMP, L3HYPDH (R118H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112316	NM_016475.5(JKAMP):c.254C>A (p.Ser85Tyr)	JKAMP, L3HYPDH (S85Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2619987	NM_144581.2(L3HYPDH):c.395G>T (p.Arg132Leu)	L3HYPDH (R132L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2616820	NM_144581.2(L3HYPDH):c.815C>T (p.Pro272Leu)	L3HYPDH (P101L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596599	NM_016475.5(JKAMP):c.470T>C (p.Val157Ala)	JKAMP, L3HYPDH (V165A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546929	NM_144581.2(L3HYPDH):c.368C>A (p.Ala123Glu)	L3HYPDH (A123E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2545566	NM_144581.2(L3HYPDH):c.757A>G (p.Thr253Ala)	L3HYPDH (T82A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519436	NM_016475.5(JKAMP):c.920G>C (p.Gly307Ala)	JKAMP, L3HYPDH (G315A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513078	NM_144581.2(L3HYPDH):c.133C>A (p.Pro45Thr)	L3HYPDH (P45T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2492800	NM_016475.5(JKAMP):c.713T>C (p.Ile238Thr)	JKAMP, L3HYPDH (I175T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461661	NM_144581.2(L3HYPDH):c.473G>T (p.Arg158Leu)	L3HYPDH (R158L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2458254	NM_144581.2(L3HYPDH):c.398T>C (p.Val133Ala)	L3HYPDH (V133A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2410210	NM_016475.5(JKAMP):c.275T>C (p.Ile92Thr)	JKAMP, L3HYPDH (I92T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408619	NM_144581.2(L3HYPDH):c.342C>G (p.Phe114Leu)	L3HYPDH (F114L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2374859	NM_144581.2(L3HYPDH):c.708C>A (p.Asp236Glu)	L3HYPDH (D236E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373911	NM_016475.5(JKAMP):c.610G>A (p.Val204Met)	JKAMP, L3HYPDH (V141M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360363	NM_144581.2(L3HYPDH):c.583G>T (p.Val195Phe)	L3HYPDH (V24F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321090	NM_144581.2(L3HYPDH):c.265C>T (p.His89Tyr)	L3HYPDH (H89Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2310927	NM_144581.2(L3HYPDH):c.35C>G (p.Pro12Arg)	L3HYPDH (P12R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2302214	NM_144581.2(L3HYPDH):c.971T>C (p.Ile324Thr)	L3HYPDH (I153T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288120	NM_016475.5(JKAMP):c.166T>A (p.Tyr56Asn)	JKAMP, L3HYPDH (Y70N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283286	NM_144581.2(L3HYPDH):c.190C>T (p.Arg64Trp)	L3HYPDH (R64W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2280589	NM_144581.2(L3HYPDH):c.687T>G (p.Ile229Met)	L3HYPDH (I58M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274214	NM_016475.5(JKAMP):c.20C>G (p.Pro7Arg)	JKAMP, L3HYPDH (P7R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254324	NM_144581.2(L3HYPDH):c.778A>C (p.Ile260Leu)	L3HYPDH (I260L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251853	NM_016475.5(JKAMP):c.926A>G (p.Asn309Ser)	JKAMP, L3HYPDH (N323S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235783	NM_144581.2(L3HYPDH):c.338G>A (p.Arg113His)	L3HYPDH (R113H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 685757	GRCh37/hg19 14q23.1(chr14:59939135-60006849)x3	CCDC175, JKAMP +1 more	Copy number gain	not provided	GUncertain significance
Select item 564123	GRCh37/hg19 14q23.1(chr14:59527587-60119877)x3	JKAMP, GPR135 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60