KIR2DS4[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147949	GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3	FCAR, KIR2DL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 2389979	NM_012314.6(KIR2DS4):c.16A>G (p.Ile6Val)	KIR2DS4 (I6V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319591	NM_012314.6(KIR2DS4):c.24G>A (p.Met8Ile)	KIR2DS4 (M1I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232536	NM_012314.6(KIR2DS4):c.24G>T (p.Met8Ile)	KIR2DS4 (M1I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464294	NM_012314.6(KIR2DS4):c.41T>C (p.Phe14Ser)	KIR2DS4 (F7S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650486	NM_012314.6(KIR2DS4):c.74T>C (p.Val25Ala)	KIR2DS4 (V18A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234349	NM_012314.6(KIR2DS4):c.110A>C (p.His37Pro)	KIR2DS4 (H30P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2483856	NM_012314.6(KIR2DS4):c.121T>C (p.Ser41Pro)	KIR2DS4 (S34P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306907	NM_012314.6(KIR2DS4):c.157G>A (p.Val53Ile)	KIR2DS4 (V53I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568537	NM_012314.6(KIR2DS4):c.164T>G (p.Phe55Cys)	KIR2DS4 (F48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115089	NM_012314.6(KIR2DS4):c.199A>G (p.Asn67Asp)	KIR2DS4 (N67D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471106	NM_012314.6(KIR2DS4):c.199A>C (p.Asn67His)	KIR2DS4 (N60H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376019	NM_012314.6(KIR2DS4):c.200A>G (p.Asn67Ser)	KIR2DS4 (N60S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115090	NM_012314.6(KIR2DS4):c.251A>G (p.Asn84Ser)	KIR2DS4 (N84S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650487	NM_012314.6(KIR2DS4):c.261T>C (p.Ile87=)	KIR2DS4	Single nucleotide variant (no sequence alteration +1 more)	not provided	GLikely benign
Select item 2260329	NM_012314.6(KIR2DS4):c.270G>T (p.Met90Ile)	KIR2DS4 (M90I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321802	NM_012314.6(KIR2DS4):c.271A>C (p.Met91Leu)	KIR2DS4 (K91Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650488	NM_012314.6(KIR2DS4):c.288A>G (p.Gly96=)	KIR2DS4	Single nucleotide variant (no sequence alteration +1 more)	not provided	GLikely benign
Select item 2341260	NM_012314.6(KIR2DS4):c.333G>T (p.Leu111Phe)	KIR2DS4 (L104F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650489	NM_012314.6(KIR2DS4):c.529A>G (p.Ile177Val)	KIR2DS4 (I177V)	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2650490	NM_012314.6(KIR2DS4):c.549C>T (p.Ala183=)	KIR2DS4 (P169L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650491	NM_012314.6(KIR2DS4):c.604T>C (p.Phe202Leu)	KIR2DS4 (F202L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650492	NM_012314.6(KIR2DS4):c.622G>A (p.Glu208Lys)	KIR2DS4 (E208K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG7, CACNG8 +51 more	Duplication	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 45