ClinVar for Gene (Select 55186) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341633	NM_001104647.3(SLC25A36):c.142C>T (p.Leu48=)	SLC25A36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3319235	NM_001104647.3(SLC25A36):c.139C>G (p.Gln47Glu)	SLC25A36 (Q47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319234	NM_001104647.3(SLC25A36):c.115G>A (p.Val39Met)	SLC25A36 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163713	NM_001104647.3(SLC25A36):c.365T>C (p.Met122Thr)	SLC25A36 (M122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163712	NM_001104647.3(SLC25A36):c.31T>C (p.Phe11Leu)	LOC129937670, SLC25A36 (F11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2607048	NM_001104647.3(SLC25A36):c.119C>T (p.Thr40Met)	SLC25A36 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460346	NM_001104647.3(SLC25A36):c.814G>T (p.Val272Phe)	SLC25A36 (V271F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443807	NM_001104647.3(SLC25A36):c.284+3A>T	SLC25A36	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 8	GPathogenic
Select item 2443806	NM_001104647.3(SLC25A36):c.803dup (p.Ser269fs)	SLC25A36 (S268fs +1 more)	Duplication (frameshift variant)	Hyperinsulinemic hypoglycemia, familial, 8	GPathogenic
Select item 2350860	NM_001104647.3(SLC25A36):c.704C>T (p.Thr235Ile)	SLC25A36 (T235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350551	NM_001104647.3(SLC25A36):c.929A>G (p.Asn310Ser)	SLC25A36 (N310S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273994	NM_001104647.3(SLC25A36):c.667G>A (p.Ala223Thr)	SLC25A36 (A223T)	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 1708507	NM_001104647.3(SLC25A36):c.469C>T (p.Arg157Ter)	SLC25A36 (R157*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	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 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
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 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 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 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 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	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 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 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

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Links from Gene

Items: 34