"Ambry Genetics"[submitter] AND "PISD"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1487418	NM_001326411.2(PISD):c.1201C>T (p.Arg401Cys)	PISD (R341C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2147683	NM_001326411.2(PISD):c.1097G>A (p.Arg366His)	PISD (R294H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2219256	NM_001326411.2(PISD):c.1090C>G (p.Pro364Ala)	PISD (P304A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203146	NM_001326411.2(PISD):c.1004G>A (p.Arg335Gln)	PISD (R237Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2397494	NM_001326411.2(PISD):c.1003C>T (p.Arg335Trp)	PISD (R237W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313296	NM_001326411.2(PISD):c.976G>C (p.Val326Leu)	PISD (V228L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593619	NM_001326411.2(PISD):c.974A>G (p.Asn325Ser)	PISD (N253S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411268	NM_001326411.2(PISD):c.882G>C (p.Trp294Cys)	PISD (W260C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483314	NM_001326411.2(PISD):c.829C>T (p.Arg277Trp)	PISD (R256W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481801	NM_001326411.2(PISD):c.818C>T (p.Thr273Ile)	PISD (T273I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539274	NM_001326411.2(PISD):c.790C>T (p.His264Tyr)	PISD (H204Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1514935	NM_001326411.2(PISD):c.665G>T (p.Arg222Leu)	PISD (R188L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1800730	NM_001326411.2(PISD):c.664C>T (p.Arg222Cys)	PISD (R162C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080712	NM_001326411.2(PISD):c.662C>T (p.Pro221Leu)	PISD (P200L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442363	NM_001326411.2(PISD):c.587A>G (p.Asn196Ser)	PISD (N196S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2082431	NM_001326411.2(PISD):c.569C>T (p.Ser190Leu)	PISD (S156L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404593	NM_001326411.2(PISD):c.538G>A (p.Val180Ile)	PISD (V146I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2459023	NM_001326411.2(PISD):c.532C>T (p.Arg178Trp)	PISD (R157W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1351480	NM_001326411.2(PISD):c.509G>A (p.Arg170Gln)	PISD (R110Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2205917	NM_001326411.2(PISD):c.504C>A (p.Phe168Leu)	PISD (F168L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338208	NM_001326411.2(PISD):c.487C>T (p.Arg163Cys)	PISD (R103C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1981509	NM_001326411.2(PISD):c.407G>A (p.Arg136His)	PISD (R76H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1349952	NM_001326411.2(PISD):c.380A>G (p.Asn127Ser)	PISD (N106S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2194175	NM_001326411.2(PISD):c.374G>A (p.Arg125His)	PISD (R104H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1928488	NM_001326411.2(PISD):c.373C>T (p.Arg125Cys)	PISD (R91C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2545681	NM_001326411.2(PISD):c.322-1861T>C	LOC110121499, PISD (Y53H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331803	NM_001326411.2(PISD):c.322-1918A>G	LOC110121499, PISD (S47G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372419	NM_001326411.2(PISD):c.322-1929T>G	LOC110121499, PISD (L43R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236672	NM_001326411.2(PISD):c.322-3918T>A	PISD, LOC110121499 (S5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 29