NCK1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 3298765	NM_001291999.2(NCK1):c.98A>G (p.Asp33Gly)	NCK1 (D33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182226	NM_001291999.2(NCK1):c.179A>G (p.Asn60Ser)	NCK1 (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328857	NM_001291999.2(NCK1):c.188G>A (p.Arg63Gln)	NCK1 (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466435	NM_001291999.2(NCK1):c.391A>G (p.Thr131Ala)	NCK1 (T67A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396131	NM_001291999.2(NCK1):c.433C>T (p.Arg145Cys)	NCK1 (R145C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280126	NM_001291999.2(NCK1):c.496A>G (p.Ser166Gly)	NCK1 (S102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477241	NM_001291999.2(NCK1):c.512A>G (p.His171Arg)	NCK1 (H171R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182242	NM_001291999.2(NCK1):c.554A>C (p.Asn185Thr)	NCK1 (N121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341512	NM_001291999.2(NCK1):c.609A>T (p.Ser203=)	NCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3298764	NM_001291999.2(NCK1):c.620A>C (p.Glu207Ala)	NCK1 (E143A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775909	NM_001291999.2(NCK1):c.772G>C (p.Gly258Arg)	IL20RB-AS1, NCK1 (G258R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2327036	NM_001291999.2(NCK1):c.817C>T (p.Leu273Phe)	IL20RB-AS1, NCK1 (L273F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382990	NM_001291999.2(NCK1):c.955G>A (p.Val319Ile)	IL20RB-AS1, NCK1 (V255I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182250	NM_001291999.2(NCK1):c.973G>A (p.Gly325Arg)	IL20RB-AS1, NCK1 (G325R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182255	NM_001291999.2(NCK1):c.999A>T (p.Gln333His)	IL20RB-AS1, NCK1 (Q269H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340182	NM_001291999.2(NCK1):c.1045A>T (p.Met349Leu)	IL20RB-AS1, NCK1 (M285L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547676	NM_001291999.2(NCK1):c.1061A>G (p.Glu354Gly)	IL20RB-AS1, NCK1 (E290G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562817	GRCh37/hg19 3q22.3(chr3:135805001-137555312)x3	STAG1, NCK1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

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Items: 37