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

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306713	NM_001326411.2(PISD):c.1202G>A (p.Arg401His)	PISD (R303H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2711383	NM_001326411.2(PISD):c.1157C>T (p.Ala386Val)	PISD (A314V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3213212	NM_001326411.2(PISD):c.1153G>A (p.Glu385Lys)	PISD (E364K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	not provided +1 more	GUncertain significance
Select item 1427703	NM_001326411.2(PISD):c.1097G>C (p.Arg366Pro)	PISD (R345P +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 1493535	NM_001326411.2(PISD):c.1087G>A (p.Val363Ile)	PISD (V291I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3213222	NM_001326411.2(PISD):c.1030C>A (p.His344Asn)	PISD (H310N +6 more)	Single nucleotide variant (missense variant)	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)	Inborn genetic diseases +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 2042891	NM_001326411.2(PISD):c.989G>A (p.Arg330His)	PISD (R232H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 3213220	NM_001326411.2(PISD):c.955A>G (p.Thr319Ala)	PISD (T259A +3 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 2907041	NM_001326411.2(PISD):c.704C>T (p.Ser235Leu)	PISD (S201L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3213219	NM_001326411.2(PISD):c.701C>T (p.Ala234Val)	PISD (A200V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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)	not provided +1 more	GUncertain significance
Select item 3213218	NM_001326411.2(PISD):c.604A>G (p.Asn202Asp)	PISD (N142D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases +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)	not provided +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 3306715	NM_001326411.2(PISD):c.509G>T (p.Arg170Leu)	PISD (R110L +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3213217	NM_001326411.2(PISD):c.394C>T (p.Pro132Ser)	PISD (P132S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	not provided +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 3213215	NM_001326411.2(PISD):c.365C>T (p.Ala122Val)	PISD (A101V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213214	NM_001326411.2(PISD):c.322-1833C>T	LOC110121499, PISD (P75L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213213	NM_001326411.2(PISD):c.322-1846G>T	LOC110121499, PISD (G58C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3306714	NM_001326411.2(PISD):c.322-1888C>T	LOC110121499, PISD (R44C +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	LOC110121499, PISD (S5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 46