ClinVar for Gene (Select 9351) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199609	NM_001130012.3(NHERF2):c.992G>A (p.Arg331His)	NHERF2 (R209H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199596	NM_001130012.3(NHERF2):c.917C>T (p.Ala306Val)	NHERF2 (A295V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199594	NM_001130012.3(NHERF2):c.914C>T (p.Thr305Met)	NHERF2 (T294M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199590	NM_001130012.3(NHERF2):c.841G>T (p.Asp281Tyr)	NHERF2 (D168Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199580	NM_001130012.3(NHERF2):c.839C>T (p.Ser280Phe)	NHERF2 (S167F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199578	NM_001130012.3(NHERF2):c.815C>T (p.Ser272Leu)	NHERF2 (S161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199577	NM_001130012.3(NHERF2):c.802G>A (p.Gly268Ser)	NHERF2 (G157S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199575	NM_001130012.3(NHERF2):c.733G>A (p.Glu245Lys)	NHERF2 (E132K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199573	NM_001130012.3(NHERF2):c.719G>A (p.Arg240Gln)	NHERF2 (R240Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199571	NM_001130012.3(NHERF2):c.718C>T (p.Arg240Trp)	NHERF2 (R240W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199568	NM_001130012.3(NHERF2):c.713G>A (p.Arg238Gln)	NHERF2 (R125Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199563	NM_001130012.3(NHERF2):c.712C>T (p.Arg238Trp)	NHERF2 (R125W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199560	NM_001130012.3(NHERF2):c.671G>A (p.Arg224Gln)	NHERF2 (R111Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199553	NM_001130012.3(NHERF2):c.622C>T (p.Arg208Cys)	NHERF2 (R95C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199551	NM_001130012.3(NHERF2):c.617G>C (p.Gly206Ala)	NHERF2 (G93A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199542	NM_001130012.3(NHERF2):c.583C>T (p.Arg195Trp)	NHERF2 (R195W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199538	NM_001130012.3(NHERF2):c.574G>A (p.Ala192Thr)	NHERF2 (A192T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199535	NM_001130012.3(NHERF2):c.571C>G (p.Arg191Gly)	NHERF2 (R191G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199532	NM_001130012.3(NHERF2):c.556G>A (p.Ala186Thr)	NHERF2 (A73T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199518	NM_001130012.3(NHERF2):c.530G>A (p.Arg177His)	NHERF2 (R177H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199516	NM_001130012.3(NHERF2):c.528C>G (p.Ile176Met)	NHERF2 (I65M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199513	NM_001130012.3(NHERF2):c.512G>C (p.Arg171Pro)	NHERF2 (R171P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199510	NM_001130012.3(NHERF2):c.464G>A (p.Arg155Gln)	NHERF2 (R44Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199502	NM_001130012.3(NHERF2):c.362C>T (p.Pro121Leu)	NHERF2 (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199500	NM_001130012.3(NHERF2):c.357G>C (p.Trp119Cys)	NHERF2 (W119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199495	NM_001130012.3(NHERF2):c.343G>C (p.Ala115Pro)	NHERF2 (A115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199492	NM_001130012.3(NHERF2):c.329G>A (p.Arg110Gln)	NHERF2 (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199491	NM_001130012.3(NHERF2):c.313G>A (p.Glu105Lys)	NHERF2 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199488	NM_001130012.3(NHERF2):c.251G>A (p.Arg84Gln)	NHERF2 (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199484	NM_001130012.3(NHERF2):c.250C>T (p.Arg84Trp)	NHERF2 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063450	GRCh37/hg19 16p13.3(chr16:2071822-2155562)x1	MIR1225, NHERF2 +3 more	Copy number loss	not specified	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2645965	NM_001130012.3(NHERF2):c.559C>T (p.Arg187Cys)	NHERF2 (R187C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645964	NM_001130012.3(NHERF2):c.511C>T (p.Arg171Trp)	NHERF2 (R171W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623729	NM_001130012.3(NHERF2):c.421A>G (p.Ser141Gly)	NHERF2 (S28G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595607	NM_001130012.3(NHERF2):c.623G>A (p.Arg208His)	NHERF2 (R208H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555484	NM_001130012.3(NHERF2):c.950G>A (p.Arg317Gln)	NHERF2 (R195Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534604	NM_001130012.3(NHERF2):c.38G>T (p.Arg13Leu)	NHERF2 (R13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524753	NM_001130012.3(NHERF2):c.200A>G (p.Glu67Gly)	NHERF2 (E67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515112	NM_001130012.3(NHERF2):c.584G>A (p.Arg195Gln)	NHERF2 (R82Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511386	NM_001130012.3(NHERF2):c.54G>T (p.Glu18Asp)	NHERF2 (E18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508895	NM_001130012.3(NHERF2):c.922G>A (p.Glu308Lys)	NHERF2 (E186K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2466490	NM_001130012.3(NHERF2):c.83A>G (p.Glu28Gly)	NHERF2 (E28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455060	NM_001130012.3(NHERF2):c.758C>T (p.Pro253Leu)	NHERF2 (P140L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454425	NM_001130012.3(NHERF2):c.542C>T (p.Pro181Leu)	NHERF2 (P181L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2423309	NC_000016.9:g.(?_2034220)_(2152787_?)del	GFER, MIR1225 +7 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423303	NC_000016.9:g.(?_2079753)_(2100460_?)del	NTHL1, NHERF2 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808105	GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1	GFER, MIR1225 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1459269	NC_000016.9:g.(?_2003468)_(2126543_?)del	GFER, NDUFB10 +12 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1455610	NC_000016.9:g.(?_2029297)_(2096295_?)del	GFER, NHERF2 +5 more	Deletion	not provided	GPathogenic
Select item 1455115	NC_000016.9:g.(?_2034220)_(2136892_?)del	NPW, SYNGR3 +5 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980582	GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3	GFER, MIR1225 +13 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	BAIAP3, CACNA1H +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	FAHD1, CRAMP1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 781320	NM_001130012.3(NHERF2):c.664G>A (p.Glu222Lys)	NHERF2 (E222K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781180	NM_001130012.3(NHERF2):c.84G>C (p.Glu28Asp)	NHERF2 (E28D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 685170	GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3	ABCA3, AMDHD2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 152270	GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1	LOC130058209, LOC130058210 +3 more	Copy number loss	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 64483	NM_001130012.3(NHERF2):c.486G>A (p.Gly162=)	NHERF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64482	NM_001130012.3(NHERF2):c.252G>A (p.Arg84=)	NHERF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic

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