ClinVar for Gene (Select 83743) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282924	NM_031485.4(GRWD1):c.365G>C (p.Ser122Thr)	GRWD1 (S122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282923	NM_031485.4(GRWD1):c.13A>G (p.Lys5Glu)	GRWD1, LOC130064859 (K5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242656	NC_000019.9:g.(?_48901650)_(49055600_?)dup	CYTH2, GRIN2D +4 more	Duplication	not provided	GUncertain significance
Select item 3102775	NM_031485.4(GRWD1):c.979G>A (p.Gly327Arg)	GRWD1 (G327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102773	NM_031485.4(GRWD1):c.974G>A (p.Ser325Asn)	GRWD1 (S325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102772	NM_031485.4(GRWD1):c.878C>T (p.Ala293Val)	GRWD1 (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102771	NM_031485.4(GRWD1):c.875G>A (p.Arg292Gln)	GRWD1 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102770	NM_031485.4(GRWD1):c.860G>A (p.Arg287His)	GRWD1 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102769	NM_031485.4(GRWD1):c.812C>T (p.Pro271Leu)	GRWD1 (P271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102767	NM_031485.4(GRWD1):c.697G>A (p.Gly233Ser)	GRWD1 (G233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102766	NM_031485.4(GRWD1):c.676G>A (p.Val226Met)	GRWD1 (V226M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102765	NM_031485.4(GRWD1):c.668C>G (p.Ser223Cys)	GRWD1 (S223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102763	NM_031485.4(GRWD1):c.580G>A (p.Ala194Thr)	GRWD1 (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102762	NM_031485.4(GRWD1):c.403G>A (p.Glu135Lys)	GRWD1 (E135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102761	NM_031485.4(GRWD1):c.397G>A (p.Asp133Asn)	GRWD1 (D133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102760	NM_031485.4(GRWD1):c.389A>T (p.Asp130Val)	GRWD1 (D130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102759	NM_031485.4(GRWD1):c.352C>A (p.Pro118Thr)	GRWD1 (P118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102758	NM_031485.4(GRWD1):c.232G>A (p.Asp78Asn)	GRWD1 (D78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102756	NM_031485.4(GRWD1):c.1324C>T (p.Arg442Cys)	GRWD1 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102755	NM_031485.4(GRWD1):c.1180G>A (p.Val394Met)	GRWD1 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102754	NM_031485.4(GRWD1):c.1172C>T (p.Ala391Val)	GRWD1 (A391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102753	NM_031485.4(GRWD1):c.1160G>A (p.Arg387Gln)	GRWD1 (R387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102752	NM_031485.4(GRWD1):c.1114T>G (p.Ser372Ala)	GRWD1 (S372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102751	NM_031485.4(GRWD1):c.10C>T (p.Arg4Cys)	GRWD1, LOC130064859 (R4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3053122	NM_031485.4(GRWD1):c.*4G>A	GRWD1	Single nucleotide variant (3 prime UTR variant)	GRWD1-related disorder	GLikely benign
Select item 3049151	NM_031485.4(GRWD1):c.1024-10C>A	GRWD1	Single nucleotide variant (intron variant)	GRWD1-related disorder	GLikely benign
Select item 3048326	NM_031485.4(GRWD1):c.849C>T (p.Asp283=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
Select item 3046006	NM_031485.4(GRWD1):c.930C>T (p.Asp310=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
Select item 3043768	NM_031485.4(GRWD1):c.1057G>A (p.Val353Met)	GRWD1 (V353M)	Single nucleotide variant (missense variant)	GRWD1-related disorder	GBenign
Select item 3042520	NM_031485.4(GRWD1):c.100C>T (p.Leu34=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
Select item 3041698	NM_031485.4(GRWD1):c.876G>A (p.Arg292=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
Select item 3039353	NM_031485.4(GRWD1):c.224A>G (p.His75Arg)	GRWD1 (H75R)	Single nucleotide variant (missense variant)	GRWD1-related disorder	GLikely benign
Select item 3039031	NM_031485.4(GRWD1):c.753C>T (p.His251=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
Select item 3034590	NM_031485.4(GRWD1):c.741C>T (p.Gly247=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
Select item 3033827	NM_031485.4(GRWD1):c.1098C>T (p.Ser366=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
Select item 2617371	NM_031485.4(GRWD1):c.671C>A (p.Pro224His)	GRWD1 (P224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606079	NM_031485.4(GRWD1):c.1108G>C (p.Ala370Pro)	GRWD1 (A370P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599432	NM_031485.4(GRWD1):c.784C>T (p.Arg262Cys)	GRWD1 (R262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593054	NM_031485.4(GRWD1):c.1325G>A (p.Arg442His)	GRWD1 (R442H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2568865	NM_031485.4(GRWD1):c.953G>A (p.Arg318His)	GRWD1 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531305	NM_031485.4(GRWD1):c.916G>A (p.Ala306Thr)	GRWD1 (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473117	NM_031485.4(GRWD1):c.545G>A (p.Arg182Gln)	GRWD1 (R182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411956	NM_031485.4(GRWD1):c.55G>A (p.Ala19Thr)	GRWD1, LOC130064859 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363925	NM_031485.4(GRWD1):c.739G>A (p.Gly247Ser)	GRWD1 (G247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359739	NM_031485.4(GRWD1):c.686G>A (p.Arg229His)	GRWD1 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348106	NM_031485.4(GRWD1):c.782C>T (p.Thr261Ile)	GRWD1 (T261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328944	NM_031485.4(GRWD1):c.211A>G (p.Ile71Val)	GRWD1 (I71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328466	NM_031485.4(GRWD1):c.454A>G (p.Ile152Val)	GRWD1 (I152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289920	NM_031485.4(GRWD1):c.1225T>G (p.Phe409Val)	GRWD1 (F409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286442	NM_031485.4(GRWD1):c.703T>C (p.Cys235Arg)	GRWD1 (C235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284871	NM_031485.4(GRWD1):c.908C>T (p.Thr303Ile)	GRWD1 (T303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278837	NM_031485.4(GRWD1):c.754G>A (p.Val252Met)	GRWD1 (V252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256334	NM_031485.4(GRWD1):c.1017G>C (p.Gln339His)	GRWD1 (Q339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230898	NM_031485.4(GRWD1):c.859C>T (p.Arg287Cys)	GRWD1 (R287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215762	NM_031485.4(GRWD1):c.1168G>C (p.Glu390Gln)	GRWD1 (E390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210344	NM_031485.4(GRWD1):c.1039G>A (p.Ala347Thr)	GRWD1 (A347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278331	NM_031485.4(GRWD1):c.956G>A (p.Arg319Gln)	GRWD1 (R319Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253887	GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3	KDELR1, GRIN2D +5 more	Copy number gain	See cases	GUncertain significance
Select item 161778	NM_031485.4(GRWD1):c.593G>A (p.Arg198Gln)	GRWD1 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71