19077[HGNC] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3050030	NM_147130.3(NCR3):c.605G>A (p.Ter202=)	NCR3	Single nucleotide variant (3 prime UTR variant +1 more)	NCR3-related disorder	GLikely benign
Select item 3185366	NM_147130.3(NCR3):c.553C>A (p.Pro185Thr)	NCR3 (P185T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2518430	NM_147130.3(NCR3):c.545C>T (p.Ala182Val)	NCR3 (A182V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2294946	NM_147130.3(NCR3):c.455T>C (p.Leu152Pro)	NCR3 (L152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458977	NM_147130.3(NCR3):c.442G>A (p.Ala148Thr)	NCR3 (A148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214954	NM_147130.3(NCR3):c.428G>A (p.Arg143Gln)	NCR3 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353901	NM_147130.3(NCR3):c.406G>A (p.Ala136Thr)	NCR3 (A136T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185350	NM_147130.3(NCR3):c.370C>T (p.Arg124Trp)	NCR3 (R124W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277728	NM_147130.3(NCR3):c.352G>A (p.Gly118Arg)	NCR3 (G118R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215627	NM_147130.3(NCR3):c.319G>A (p.Val107Met)	NCR3 (V107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185340	NM_147130.3(NCR3):c.227G>A (p.Arg76His)	NCR3 (R76H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185337	NM_147130.3(NCR3):c.197T>A (p.Val66Glu)	NCR3 (V66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599439	NM_147130.3(NCR3):c.196G>T (p.Val66Leu)	NCR3 (V66L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293604	NM_147130.3(NCR3):c.193G>A (p.Glu65Lys)	NCR3 (E65K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282989	NM_147130.3(NCR3):c.113C>T (p.Pro38Leu)	NCR3 (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185372	NM_147130.3(NCR3):c.83G>C (p.Arg28Pro)	NCR3 (R28P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 726474	NM_147130.3(NCR3):c.75T>G (p.Pro25=)	NCR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785804	NM_147130.3(NCR3):c.56T>G (p.Leu19Arg)	NCR3 (L19R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656403	NM_147130.3(NCR3):c.44-3del	NCR3	Deletion (intron variant)	not provided	GLikely benign
Select item 2656404	NM_147130.3(NCR3):c.44-8G>A	NCR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3044589	NM_147130.3(NCR3):c.13C>T (p.Leu5=)	NCR3	Single nucleotide variant (synonymous variant)	NCR3-related disorder	GLikely benign
Select item 1803723	NM_147130.3(NCR3):c.-172G>A	NCR3	Single nucleotide variant (5 prime UTR variant)	Malaria, severe, susceptibility to	GPathogenic
Select item 876	NC_000006.12:g.31593133C>G	NCR3	Single nucleotide variant	Malaria, severe, susceptibility to +1 more	GPathogenic; risk factor
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 32