ClinVar for Gene (Select 5898) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 2983246	NM_005402.4(RALA):c.323+16A>G	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969088	NM_005402.4(RALA):c.324-14T>G	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914218	NM_005402.4(RALA):c.114+10A>T	RALA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2881568	NM_005402.4(RALA):c.51C>A (p.Val17=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873490	NM_005402.4(RALA):c.409G>A (p.Val137Ile)	RALA (V137I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868361	NM_005402.4(RALA):c.115-19G>A	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861042	NM_005402.4(RALA):c.499-17A>G	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855293	NM_005402.4(RALA):c.111T>C (p.Asp37=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836721	NM_005402.4(RALA):c.309T>C (p.Ala103=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836416	NM_005402.4(RALA):c.590A>G (p.Lys197Arg)	RALA (K197R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2825756	NM_005402.4(RALA):c.323+1G>A	RALA	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2799508	NM_005402.4(RALA):c.258G>C (p.Gly86=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793054	NM_005402.4(RALA):c.308C>T (p.Ala103Val)	RALA (A103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788775	NM_005402.4(RALA):c.251G>A (p.Arg84Gln)	RALA (R84Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763324	NM_005402.4(RALA):c.433A>G (p.Arg145Gly)	RALA (R145G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728163	NM_005402.4(RALA):c.339A>G (p.Arg113=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717277	NM_005402.4(RALA):c.183A>G (p.Glu61=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708773	NM_005402.4(RALA):c.32C>G (p.Ser11Cys)	RALA (S11C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697078	NM_005402.4(RALA):c.70G>A (p.Gly24Ser)	RALA (G24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630852	NM_005402.4(RALA):c.611G>A (p.Cys204Tyr)	RALA (C204Y)	Single nucleotide variant (missense variant)	RALA-related condition	GUncertain significance
Select item 2626855	NM_005402.4(RALA):c.68G>C (p.Gly23Ala)	RALA (G23A)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GLikely pathogenic
Select item 2582518	NM_005402.4(RALA):c.46A>G (p.Lys16Glu)	RALA (K16E)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GLikely pathogenic
Select item 2579480	NM_005402.4(RALA):c.435_436del (p.Arg145fs)	RALA (R145fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2574156	NM_005402.4(RALA):c.467C>T (p.Thr156Ile)	RALA (T156I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2427837	NM_005402.4(RALA):c.585A>G (p.Leu195=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2425347	NC_000007.13:g.(?_39745702)_(39745844_?)del	RALA	Deletion	not provided	GUncertain significance
Select item 2416355	NM_005402.4(RALA):c.225C>T (p.Tyr75=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392763	NM_005402.4(RALA):c.497A>G (p.Lys166Arg)	RALA (K166R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2190735	NM_005402.4(RALA):c.529G>A (p.Ala177Thr)	RALA (A177T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2134154	NM_005402.4(RALA):c.498+5C>T	RALA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2106454	NM_005402.4(RALA):c.147C>T (p.Asp49=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099688	NM_005402.4(RALA):c.460G>A (p.Val154Met)	RALA (V154M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2098532	NM_005402.4(RALA):c.114+10A>G	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087340	NM_005402.4(RALA):c.498+17T>C	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086926	NM_005402.4(RALA):c.307G>A (p.Ala103Thr)	RALA (A103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086882	NM_005402.4(RALA):c.114+3A>G	RALA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2079224	NM_005402.4(RALA):c.597C>G (p.Ile199Met)	RALA (I199M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060502	NM_005402.4(RALA):c.377G>A (p.Gly126Asp)	RALA (G126D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058210	NM_005402.4(RALA):c.508G>T (p.Asp170Tyr)	RALA (D170Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2052275	NM_005402.4(RALA):c.144A>T (p.Ala48=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048694	NM_005402.4(RALA):c.415G>C (p.Val139Leu)	RALA (V139L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023445	NM_005402.4(RALA):c.234T>C (p.Ile78=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008954	NM_005402.4(RALA):c.576G>A (p.Arg192=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000559	NM_005402.4(RALA):c.264G>T (p.Gly88=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976328	NM_005402.4(RALA):c.323+4T>C	RALA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1963882	NM_005402.4(RALA):c.324G>A (p.Arg108=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1954044	NM_005402.4(RALA):c.109G>A (p.Asp37Asn)	RALA (D37N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950769	NM_005402.4(RALA):c.276T>C (p.Val92=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904050	NM_005402.4(RALA):c.123G>A (p.Glu41=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903274	NM_005402.4(RALA):c.499-9dup	RALA	Duplication (intron variant)	not provided	GBenign
Select item 1804032	NM_005402.4(RALA):c.472G>A (p.Ala158Thr)	RALA (A158T)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1707851	NM_005402.4(RALA):c.481C>T (p.Arg161Ter)	RALA (R161*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1700118	NM_005402.4(RALA):c.470C>T (p.Ser157Phe)	RALA (S157F)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GPathogenic
Select item 1687554	NM_005402.4(RALA):c.478A>C (p.Thr160Pro)	RALA (T160P)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GUncertain significance
Select item 1674494	NM_005402.4(RALA):c.499-6T>C	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669553	NM_005402.4(RALA):c.342A>G (p.Val114=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662184	NM_005402.4(RALA):c.498+17T>A	RALA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1659916	NM_005402.4(RALA):c.499-9del	RALA	Deletion (intron variant)	not provided	GBenign
Select item 1652681	NM_005402.4(RALA):c.459C>T (p.Tyr153=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649675	NM_005402.4(RALA):c.499-9T>C	RALA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1645105	NM_005402.4(RALA):c.186C>A (p.Val62=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639327	NM_005402.4(RALA):c.498+7C>T	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635570	NM_005402.4(RALA):c.582T>C (p.Ser194=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617102	NM_005402.4(RALA):c.531G>A (p.Ala177=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1602016	NM_005402.4(RALA):c.114+9T>C	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600063	NM_005402.4(RALA):c.4G>A (p.Ala2Thr)	RALA (A2T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1586232	NM_005402.4(RALA):c.501A>G (p.Val167=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575130	NM_005402.4(RALA):c.138C>G (p.Thr46=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546076	NM_005402.4(RALA):c.499-4C>T	RALA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1512232	NM_005402.4(RALA):c.272G>T (p.Cys91Phe)	RALA (C91F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1507572	NM_005402.4(RALA):c.302T>C (p.Phe101Ser)	RALA (F101S)	Single nucleotide variant (missense variant)	RALA-related condition +1 more	GUncertain significance
Select item 1503210	NM_005402.4(RALA):c.549C>G (p.Ser183Arg)	RALA (S183R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499933	NM_005402.4(RALA):c.310A>G (p.Thr104Ala)	RALA (T104A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459507	NC_000007.13:g.(?_39726267)_(42262852_?)del	CDK13, GLI3 +4 more	Deletion	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1438238	NM_005402.4(RALA):c.60G>A (p.Val20=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423350	NM_005402.4(RALA):c.72C>T (p.Gly24=)	RALA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376390	NM_005402.4(RALA):c.499G>A (p.Val167Ile)	RALA (V167I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367953	NM_005402.4(RALA):c.38C>T (p.Ala13Val)	RALA (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359849	NM_005402.4(RALA):c.491T>C (p.Val164Ala)	RALA (V164A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340861	GRCh37/hg19 7p14.1(chr7:38728844-40069964)x3	CDK13, POU6F2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1335663	NM_005402.4(RALA):c.383A>G (p.Lys128Arg)	RALA (K128R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1331621	NM_005402.4(RALA):c.488A>T (p.Asn163Ile)	RALA (N163I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320180	NM_005402.4(RALA):c.404_429dup (p.Asn144delinsAspArgPheLeuTer)	RALA	Duplication (nonsense)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GLikely pathogenic
Select item 1068754	NM_005402.4(RALA):c.469T>G (p.Ser157Ala)	RALA (S157A)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GPathogenic
Select item 1068753	NM_005402.4(RALA):c.389A>G (p.Asp130Gly)	RALA (D130G)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GPathogenic
Select item 1068752	NM_005402.4(RALA):c.73G>T (p.Val25Leu)	RALA (V25L)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GPathogenic
Select item 872219	NM_005402.4(RALA):c.390T>A (p.Asp130Glu)	RALA (D130E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 521019	NM_005402.4(RALA):c.73G>A (p.Val25Met)	RALA (V25M)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 517138	NM_005402.4(RALA):c.526C>T (p.Arg176Ter)	RALA (R176*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442557	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 441054	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	not provided	Gnot provided

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