GRWD1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 3282923	NM_031485.4(GRWD1):c.13A>G (p.Lys5Glu)	GRWD1, LOC130064859 (K5E)	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 3042520	NM_031485.4(GRWD1):c.100C>T (p.Leu34=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
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 3039353	NM_031485.4(GRWD1):c.224A>G (p.His75Arg)	GRWD1 (H75R)	Single nucleotide variant (missense variant)	GRWD1-related disorder	GLikely benign
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 3102759	NM_031485.4(GRWD1):c.352C>A (p.Pro118Thr)	GRWD1 (P118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3102760	NM_031485.4(GRWD1):c.389A>T (p.Asp130Val)	GRWD1 (D130V)	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 3102762	NM_031485.4(GRWD1):c.403G>A (p.Glu135Lys)	GRWD1 (E135K)	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 2473117	NM_031485.4(GRWD1):c.545G>A (p.Arg182Gln)	GRWD1 (R182Q)	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 161778	NM_031485.4(GRWD1):c.593G>A (p.Arg198Gln)	GRWD1 (R198Q)	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 2617371	NM_031485.4(GRWD1):c.671C>A (p.Pro224His)	GRWD1 (P224H)	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 2359739	NM_031485.4(GRWD1):c.686G>A (p.Arg229His)	GRWD1 (R229H)	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 2286442	NM_031485.4(GRWD1):c.703T>C (p.Cys235Arg)	GRWD1 (C235R)	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 3034590	NM_031485.4(GRWD1):c.741C>T (p.Gly247=)	GRWD1	Single nucleotide variant (synonymous 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 2278837	NM_031485.4(GRWD1):c.754G>A (p.Val252Met)	GRWD1 (V252M)	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 2599432	NM_031485.4(GRWD1):c.784C>T (p.Arg262Cys)	GRWD1 (R262C)	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 3048326	NM_031485.4(GRWD1):c.849C>T (p.Asp283=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
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 3102770	NM_031485.4(GRWD1):c.860G>A (p.Arg287His)	GRWD1 (R287H)	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 3041698	NM_031485.4(GRWD1):c.876G>A (p.Arg292=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
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 2284871	NM_031485.4(GRWD1):c.908C>T (p.Thr303Ile)	GRWD1 (T303I)	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 3046006	NM_031485.4(GRWD1):c.930C>T (p.Asp310=)	GRWD1	Single nucleotide variant (synonymous variant)	GRWD1-related disorder	GLikely benign
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 1278331	NM_031485.4(GRWD1):c.956G>A (p.Arg319Gln)	GRWD1 (R319Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3102775	NM_031485.4(GRWD1):c.979G>A (p.Gly327Arg)	GRWD1 (G327R)	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 3049151	NM_031485.4(GRWD1):c.1024-10C>A	GRWD1	Single nucleotide variant (intron variant)	GRWD1-related disorder	GLikely benign
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 3043768	NM_031485.4(GRWD1):c.1057G>A (p.Val353Met)	GRWD1 (V353M)	Single nucleotide variant (missense variant)	GRWD1-related disorder	GBenign
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 2606079	NM_031485.4(GRWD1):c.1108G>C (p.Ala370Pro)	GRWD1 (A370P)	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 3102753	NM_031485.4(GRWD1):c.1160G>A (p.Arg387Gln)	GRWD1 (R387Q)	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 3102754	NM_031485.4(GRWD1):c.1172C>T (p.Ala391Val)	GRWD1 (A391V)	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 2289920	NM_031485.4(GRWD1):c.1225T>G (p.Phe409Val)	GRWD1 (F409V)	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 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 3053122	NM_031485.4(GRWD1):c.*4G>A	GRWD1	Single nucleotide variant (3 prime UTR variant)	GRWD1-related disorder	GLikely benign
Select item 3242656	NC_000019.9:g.(?_48901650)_(49055600_?)dup	CYTH2, GRIN2D +4 more	Duplication	not provided	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 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

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Items: 71