SLC35G2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 42

	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
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 1340062	GRCh37/hg19 3q22.3(chr3:136358576-136577368)x3	SLC35G2, STAG1	Copy number gain	not provided	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42