NCK1-DT[gene] - ClinVar

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Items: 33

	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 2480116	NM_025246.3(SLC35G2):c.31G>A (p.Val11Ile)	NCK1-DT, SLC35G2 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487485	NM_025246.3(SLC35G2):c.68T>C (p.Met23Thr)	NCK1-DT, SLC35G2 (M23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319646	NM_025246.3(SLC35G2):c.118G>A (p.Glu40Lys)	NCK1-DT, SLC35G2 (E40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319644	NM_025246.3(SLC35G2):c.133T>C (p.Tyr45His)	NCK1-DT, SLC35G2 (Y45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319645	NM_025246.3(SLC35G2):c.154A>T (p.Asn52Tyr)	NCK1-DT, SLC35G2 (N52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328974	NM_025246.3(SLC35G2):c.164A>G (p.Lys55Arg)	NCK1-DT, SLC35G2 (K55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270006	NM_025246.3(SLC35G2):c.188A>C (p.Lys63Thr)	NCK1-DT, SLC35G2 (K63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237454	NM_025246.3(SLC35G2):c.229C>T (p.Pro77Ser)	NCK1-DT, SLC35G2 (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456594	NM_025246.3(SLC35G2):c.247A>G (p.Met83Val)	NCK1-DT, SLC35G2 (M83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164453	NM_025246.3(SLC35G2):c.265C>A (p.Gln89Lys)	NCK1-DT, SLC35G2 (Q89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290760	NM_025246.3(SLC35G2):c.498A>C (p.Leu166Phe)	NCK1-DT, SLC35G2 (L166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351760	NM_025246.3(SLC35G2):c.562A>G (p.Ile188Val)	NCK1-DT, SLC35G2 (I188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326905	NM_025246.3(SLC35G2):c.671C>T (p.Ala224Val)	NCK1-DT, SLC35G2 (A224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164454	NM_025246.3(SLC35G2):c.723T>G (p.Ile241Met)	NCK1-DT, SLC35G2 (I241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164455	NM_025246.3(SLC35G2):c.747A>T (p.Leu249Phe)	NCK1-DT, SLC35G2 (L249F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164451	NM_025246.3(SLC35G2):c.1013C>G (p.Ala338Gly)	SLC35G2, NCK1-DT (A338G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321126	NM_025246.3(SLC35G2):c.1054C>A (p.His352Asn)	NCK1-DT, SLC35G2 (H352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319642	NM_025246.3(SLC35G2):c.1064T>C (p.Ile355Thr)	NCK1-DT, SLC35G2 (I355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219371	NM_025246.3(SLC35G2):c.1093G>A (p.Val365Met)	NCK1-DT, SLC35G2 (V365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319647	NM_025246.3(SLC35G2):c.1204G>A (p.Asp402Asn)	NCK1-DT, SLC35G2 (D402N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164452	NM_025246.3(SLC35G2):c.1229C>T (p.Pro410Leu)	SLC35G2, NCK1-DT (P410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33