ClinVar for Gene (Select 23761) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3213219	NM_001326411.2(PISD):c.701C>T (p.Ala234Val)	PISD (A200V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 3013851	NM_001326411.2(PISD):c.53C>T (p.Pro18Leu)	LOC126863123, PISD (P18L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008156	NM_001326411.2(PISD):c.975C>T (p.Asn325=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007763	NM_001326411.2(PISD):c.78T>C (p.Cys26=)	PISD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2997417	NM_001326411.2(PISD):c.570G>C (p.Ser190=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994082	NM_001326411.2(PISD):c.1158C>T (p.Ala386=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984506	NM_001326411.2(PISD):c.697+19G>A	PISD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977656	NM_001326411.2(PISD):c.999T>C (p.Phe333=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971869	NM_001326411.2(PISD):c.700G>A (p.Ala234Thr)	PISD (A200T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907041	NM_001326411.2(PISD):c.704C>T (p.Ser235Leu)	PISD (S201L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903590	NM_001326411.2(PISD):c.651G>A (p.Ser217=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896836	NM_001326411.2(PISD):c.111C>T (p.Pro37=)	PISD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2896390	NM_001326411.2(PISD):c.222C>T (p.Gly74=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2891956	NM_001326411.2(PISD):c.1173T>C (p.Asn391=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889910	NM_001326411.2(PISD):c.750G>A (p.Glu250=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888912	NM_001326411.2(PISD):c.1140C>T (p.Ile380=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888594	NM_001326411.2(PISD):c.906C>T (p.Asn302=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887697	NM_001326411.2(PISD):c.351C>T (p.Arg117=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854374	NM_001326411.2(PISD):c.66-16T>C	PISD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835042	NM_001326411.2(PISD):c.146-8dup	PISD	Duplication (intron variant)	not provided	GBenign
Select item 2807239	NM_001326411.2(PISD):c.643del (p.Leu215fs)	PISD (L194fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2792437	NM_001326411.2(PISD):c.333C>T (p.Tyr111=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787851	NM_001326411.2(PISD):c.16G>A (p.Gly6Arg)	LOC126863123, PISD (G6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783798	NM_001326411.2(PISD):c.983C>T (p.Ser328Phe)	PISD (S294F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783714	NM_001326411.2(PISD):c.729G>C (p.Leu243=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716301	NM_001326411.2(PISD):c.115C>G (p.Arg39Gly)	PISD (R39G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2715638	NM_001326411.2(PISD):c.844+9G>A	PISD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713134	NM_001326411.2(PISD):c.81G>A (p.Glu27=)	PISD	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 2700183	NM_001326411.2(PISD):c.698-2A>G	PISD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2696718	NM_001326411.2(PISD):c.845-2A>G	PISD	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2653073	NM_001326411.2(PISD):c.221G>A (p.Gly74Asp)	PISD (G14D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653072	NM_001326411.2(PISD):c.322-3883G>C	LOC110121499, PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 2417675	NM_001326411.2(PISD):c.1143G>A (p.Val381=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413700	NM_001326411.2(PISD):c.1225C>T (p.Leu409Phe)	PISD (L311F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 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 2236672	NM_001326411.2(PISD):c.322-3918T>A	LOC110121499, PISD (S5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2203465	NM_001326411.2(PISD):c.241C>T (p.Arg81Trp)	PISD (R81W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2195305	NM_001326411.2(PISD):c.811G>A (p.Asp271Asn)	PISD (D211N +3 more)	Single nucleotide variant (missense variant)	not provided	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 2193147	NM_001326411.2(PISD):c.902A>G (p.His301Arg)	PISD (H267R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190192	NM_001326411.2(PISD):c.415G>A (p.Val139Ile)	PISD (V105I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189051	NM_001326411.2(PISD):c.32G>C (p.Gly11Ala)	LOC126863123, PISD (G11A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2186181	NM_001326411.2(PISD):c.429C>T (p.Tyr143=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172727	NM_001326411.2(PISD):c.650C>T (p.Ser217Leu)	PISD (S183L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162244	NM_001326411.2(PISD):c.1098T>C (p.Arg366=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2140124	NM_001326411.2(PISD):c.702G>A (p.Ala234=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131993	NM_001326411.2(PISD):c.196C>G (p.Pro66Ala)	PISD (P6A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2127936	NM_001326411.2(PISD):c.732C>T (p.Val244=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123350	NM_001326411.2(PISD):c.513C>G (p.Arg171=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111347	NM_001326411.2(PISD):c.65+13G>A	LOC126863123, PISD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101116	NM_001326411.2(PISD):c.491A>G (p.Asn164Ser)	PISD (N143S +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 2068489	NM_001326411.2(PISD):c.1073C>G (p.Thr358Ser)	PISD (T260S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065789	NM_001326411.2(PISD):c.844+8C>T	PISD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2053057	NM_001326411.2(PISD):c.924G>C (p.Thr308=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2024407	NM_001326411.2(PISD):c.1103G>A (p.Gly368Asp)	PISD (G270D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023470	NM_001326411.2(PISD):c.887A>C (p.Lys296Thr)	PISD (K275T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2018308	NM_001326411.2(PISD):c.1006-18C>T	PISD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014633	NM_001326411.2(PISD):c.695C>T (p.Pro232Leu)	PISD (P232L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011447	NM_001326411.2(PISD):c.1172_1174dup (p.Asn391_Phe392insTyr)	PISD	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1988569	NM_001326411.2(PISD):c.49G>A (p.Ala17Thr)	LOC126863123, PISD (A17T)	Single nucleotide variant (missense variant +1 more)	not provided	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 1965153	NM_001326411.2(PISD):c.347C>T (p.Thr116Met)	PISD (T82M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1952649	NM_001326411.2(PISD):c.768C>T (p.Ile256=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952445	NM_001326411.2(PISD):c.921G>C (p.Leu307=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1944014	NM_001326411.2(PISD):c.241C>G (p.Arg81Gly)	PISD (R21G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1943987	NM_001326411.2(PISD):c.570G>A (p.Ser190=)	PISD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941669	NM_001326411.2(PISD):c.48C>T (p.Val16=)	LOC126863123, PISD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1936873	NM_001326411.2(PISD):c.284G>A (p.Gly95Glu)	PISD (G95E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928555	NM_001326411.2(PISD):c.291G>T (p.Glu97Asp)	PISD (E97D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1925063	NM_001326411.2(PISD):c.1003C>A (p.Arg335=)	PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1921224	NM_001326411.2(PISD):c.1192C>G (p.Gln398Glu)	PISD (Q338E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920730	NM_001326411.2(PISD):c.698-22_698-20del	PISD	Deletion (intron variant)	not provided	GLikely benign

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