PACSIN1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2508520	NM_020804.5(PACSIN1):c.16G>A (p.Asp6Asn)	PACSIN1 (D6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527024	NM_020804.5(PACSIN1):c.244C>T (p.Arg82Trp)	PACSIN1 (R82W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207905	NM_020804.5(PACSIN1):c.254G>T (p.Gly85Val)	PACSIN1 (G85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456396	NM_020804.5(PACSIN1):c.403G>T (p.Ala135Ser)	PACSIN1 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284077	NM_020804.5(PACSIN1):c.418C>T (p.Arg140Cys)	PACSIN1 (R140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288178	NM_020804.5(PACSIN1):c.467C>G (p.Ala156Gly)	PACSIN1 (A156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207906	NM_020804.5(PACSIN1):c.511A>G (p.Met171Val)	PACSIN1 (M171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561022	NM_020804.5(PACSIN1):c.524T>C (p.Met175Thr)	PACSIN1 (M175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207907	NM_020804.5(PACSIN1):c.536C>T (p.Thr179Met)	PACSIN1 (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548047	NM_020804.5(PACSIN1):c.695A>C (p.Glu232Ala)	PACSIN1 (E232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300837	NM_020804.5(PACSIN1):c.805C>G (p.Arg269Gly)	PACSIN1 (R269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570158	NM_020804.5(PACSIN1):c.976G>A (p.Val326Met)	PACSIN1 (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245410	NM_020804.5(PACSIN1):c.997G>A (p.Gly333Arg)	PACSIN1 (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207901	NM_020804.5(PACSIN1):c.1039G>A (p.Val347Ile)	PACSIN1 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253247	NM_020804.5(PACSIN1):c.1077G>C (p.Glu359Asp)	PACSIN1 (E359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278186	NM_020804.5(PACSIN1):c.1103C>T (p.Pro368Leu)	PACSIN1 (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207902	NM_020804.5(PACSIN1):c.1129G>A (p.Gly377Ser)	PACSIN1 (G377S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207903	NM_020804.5(PACSIN1):c.1192G>A (p.Gly398Ser)	PACSIN1 (G398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530884	NM_020804.5(PACSIN1):c.1289G>A (p.Ser430Asn)	PACSIN1 (S430N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 979554	GRCh37/hg19 6p21.31(chr6:34402894-34491055)x1	PACSIN1	Copy number loss	not provided	GUncertain significance
Select item 979553	GRCh37/hg19 6p21.31(chr6:34471615-34659186)x1	ILRUN, PACSIN1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 253678	GRCh37/hg19 6p21.31(chr6:34482666-34949939)x3	SNRPC, ANKS1A +5 more	Copy number gain	See cases	GUncertain significance

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Items: 29