26303[HGNC] - ClinVar

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Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 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 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	LOC129937649, LOC129937650 +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 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 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 2213039	NM_001037172.3(PXYLP1):c.44C>T (p.Ala15Val)	PXYLP1 (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589142	NM_001037172.3(PXYLP1):c.158C>T (p.Thr53Met)	PXYLP1 (T15M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150151	NM_001037172.3(PXYLP1):c.286C>T (p.Arg96Cys)	PXYLP1 (R58C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593938	NM_001037172.3(PXYLP1):c.311A>G (p.Tyr104Cys)	PXYLP1 (Y66C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239119	NM_001037172.3(PXYLP1):c.320C>T (p.Pro107Leu)	PXYLP1 (P69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480596	NM_001037172.3(PXYLP1):c.323A>G (p.Lys108Arg)	PXYLP1 (K108R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269241	NM_001037172.3(PXYLP1):c.433G>A (p.Glu145Lys)	PXYLP1 (E145K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150152	NM_001037172.3(PXYLP1):c.541A>T (p.Arg181Trp)	PXYLP1 (R181W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282593	NM_001037172.3(PXYLP1):c.589G>A (p.Ala197Thr)	PXYLP1 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332892	NM_001037172.3(PXYLP1):c.700C>T (p.His234Tyr)	PXYLP1 (H196Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518614	NM_001037172.3(PXYLP1):c.713C>T (p.Ala238Val)	PXYLP1 (A200V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150153	NM_001037172.3(PXYLP1):c.716T>C (p.Leu239Pro)	PXYLP1 (L239P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263959	NM_001037172.3(PXYLP1):c.727G>A (p.Gly243Arg)	PXYLP1 (G205R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468600	NM_001037172.3(PXYLP1):c.779G>A (p.Arg260His)	PXYLP1 (R260H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469240	NM_001037172.3(PXYLP1):c.794G>A (p.Arg265His)	PXYLP1 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270590	NM_001037172.3(PXYLP1):c.853C>T (p.Pro285Ser)	PXYLP1 (P247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558026	NM_001037172.3(PXYLP1):c.892A>G (p.Met298Val)	PXYLP1 (M260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590081	NM_001037172.3(PXYLP1):c.1150C>A (p.Pro384Thr)	PXYLP1 (P346T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395536	NM_001037172.3(PXYLP1):c.1294A>G (p.Thr432Ala)	PXYLP1 (T394A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150147	NM_001037172.3(PXYLP1):c.1315C>T (p.His439Tyr)	PXYLP1 (H401Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150148	NM_001037172.3(PXYLP1):c.1316A>T (p.His439Leu)	PXYLP1 (H401L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279384	NM_001037172.3(PXYLP1):c.1322G>T (p.Arg441Leu)	PXYLP1 (R403L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247137	NM_001037172.3(PXYLP1):c.1343C>T (p.Pro448Leu)	PXYLP1 (P410L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371840	NM_001037172.3(PXYLP1):c.1360C>T (p.Arg454Cys)	PXYLP1 (R416C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328054	NM_001037172.3(PXYLP1):c.1361G>A (p.Arg454His)	PXYLP1 (R416H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150149	NM_001037172.3(PXYLP1):c.1434A>T (p.Glu478Asp)	PXYLP1 (E440D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150150	NM_001037172.3(PXYLP1):c.1435G>A (p.Gly479Arg)	PXYLP1 (G441R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
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 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980064	GRCh37/hg19 3q23(chr3:140829421-141154102)x1	SPSB4, ZBTB38 +1 more	Copy number loss	not provided	GUncertain significance
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 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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +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

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Items: 48