ClinVar for Gene (Select 80852) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282829	NM_001080423.4(GRIP2):c.-5C>T	GRIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3282828	NM_001080423.2(GRIP2):c.212C>T (p.Pro71Leu)	GRIP2 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282827	NM_001080423.4(GRIP2):c.1009C>T (p.Pro337Ser)	GRIP2 (P337S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3102576	NM_001080423.4(GRIP2):c.3118C>T (p.Pro1040Ser)	GRIP2 (P1040S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102575	NM_001080423.4(GRIP2):c.2602G>C (p.Gly868Arg)	GRIP2 (G868R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102574	NM_001080423.4(GRIP2):c.2563C>T (p.Pro855Ser)	GRIP2 (P855S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102573	NM_001080423.4(GRIP2):c.2186C>T (p.Thr729Ile)	GRIP2 (T729I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102571	NM_001080423.4(GRIP2):c.1988G>A (p.Gly663Glu)	GRIP2 (G663E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102570	NM_001080423.4(GRIP2):c.1183C>T (p.Pro395Ser)	GRIP2 (P395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102569	NM_001080423.4(GRIP2):c.1174T>C (p.Phe392Leu)	GRIP2 (F392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102568	NM_001080423.4(GRIP2):c.915G>A (p.Met305Ile)	GRIP2 (M305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102567	NM_001080423.4(GRIP2):c.832C>T (p.Arg278Cys)	GRIP2 (R278C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102566	NM_001080423.4(GRIP2):c.829G>A (p.Asp277Asn)	GRIP2 (D277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2653583	NM_001080423.4(GRIP2):c.642C>T (p.Thr214=)	GRIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653582	NM_001080423.4(GRIP2):c.2499G>A (p.Thr833=)	GRIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618388	NM_001080423.4(GRIP2):c.464G>T (p.Gly155Val)	GRIP2 (G155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594654	NM_001080423.4(GRIP2):c.365G>T (p.Arg122Leu)	GRIP2 (R122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555538	NM_001080423.4(GRIP2):c.1483C>T (p.Pro495Ser)	GRIP2 (P495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532547	NM_001080423.4(GRIP2):c.1681C>T (p.Pro561Ser)	GRIP2 (P561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524622	NM_001080423.2(GRIP2):c.218T>C (p.Leu73Pro)	GRIP2 (L73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509410	NM_001080423.4(GRIP2):c.2143C>T (p.Pro715Ser)	GRIP2 (P715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478579	NM_001080423.4(GRIP2):c.2375C>T (p.Thr792Ile)	GRIP2 (T792I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460805	NM_001080423.4(GRIP2):c.1643C>T (p.Ser548Phe)	GRIP2 (S548F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456623	NM_001080423.4(GRIP2):c.223G>A (p.Val75Ile)	GRIP2 (V75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383519	NM_001080423.4(GRIP2):c.167G>T (p.Gly56Val)	GRIP2 (G56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382933	NM_001080423.4(GRIP2):c.1988G>T (p.Gly663Val)	GRIP2 (G663V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360691	NM_001080423.4(GRIP2):c.3087C>A (p.Ser1029Arg)	GRIP2 (S1029R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345355	NM_001080423.4(GRIP2):c.1951G>A (p.Gly651Ser)	GRIP2 (G651S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333231	NM_001080423.4(GRIP2):c.160A>G (p.Lys54Glu)	GRIP2 (K54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323086	NM_001080423.4(GRIP2):c.523C>A (p.Pro175Thr)	GRIP2 (P175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317673	NM_001080423.4(GRIP2):c.2878G>T (p.Gly960Cys)	GRIP2 (G960C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297441	NM_001080423.4(GRIP2):c.1174T>G (p.Phe392Val)	GRIP2 (F392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289979	NM_001080423.2(GRIP2):c.244C>T (p.Arg82Cys)	GRIP2 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243721	NM_001080423.4(GRIP2):c.2699C>T (p.Thr900Ile)	GRIP2 (T900I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214244	NM_001080423.4(GRIP2):c.125A>G (p.Glu42Gly)	GRIP2 (E42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208719	NM_001080423.4(GRIP2):c.2323C>T (p.Pro775Ser)	GRIP2 (P775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 562757	GRCh37/hg19 3p25.1(chr3:14283860-14552127)x3	SLC6A6, GRIP2	Copy number gain	not provided	GLikely benign
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58