SOX14[gene] - ClinVar

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Items: 29

	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 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 57794	GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3	A4GNT, ARMC8 +16 more	Copy number gain	See cases	GUncertain significance
Select item 3167732	NM_004189.4(SOX14):c.61G>A (p.Gly21Ser)	LOC108281117, SOX14 (G21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273595	NM_004189.4(SOX14):c.133G>A (p.Glu45Lys)	LOC108281117, SOX14 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167729	NM_004189.4(SOX14):c.157G>A (p.Glu53Lys)	LOC108281117, SOX14 (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321620	NM_004189.4(SOX14):c.376C>T (p.Arg126Trp)	SOX14 (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290288	NM_004189.4(SOX14):c.442G>T (p.Ala148Ser)	SOX14 (A148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167730	NM_004189.4(SOX14):c.532G>A (p.Gly178Ser)	SOX14 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317327	NM_004189.4(SOX14):c.553C>G (p.Gln185Glu)	SOX14 (Q185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167733	NM_004189.4(SOX14):c.622T>C (p.Ser208Pro)	SOX14 (S208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167734	NM_004189.4(SOX14):c.686T>G (p.Ile229Arg)	SOX14 (I229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376790	NM_004189.4(SOX14):c.719T>C (p.Met240Thr)	SOX14 (M240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221918	NM_004189.4(SOX14):c.723del (p.Ter241TyrextTer?)	SOX14	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
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 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: 29