ClinVar for Gene (Select 103344718) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060734	NM_032774.1:c.*304A>T	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GBenign
Select item 3058490	NM_032774.1:c.131G>T	H19, HOTS +1 more (G44V)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3052650	NM_032774.1:c.*277T>C	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GLikely benign
Select item 3051583	NM_032774.1:c.*354G>A	H19, HOTS +1 more (L81F)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3050333	NM_032774.1:c.55A>G	H19, HOTS +1 more (N19D)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3045777	NM_032774.1:c.113C>T	H19, HOTS +1 more (T38M)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3045472	NM_032774.1:c.*364G>A	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GLikely benign
Select item 3033654	NM_032774.1:c.119C>T	H19, HOTS +1 more (S40L)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 2641353	NM_032774.1:c.39_40AC[1]	H19, HOTS +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1678361	NM_032774.1:c.*315A>T	H19, HOTS +1 more (L94I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 148135	GRCh38/hg38 11p15.5(chr11:1995445-1995611)x3	H19, HOTS +1 more	Copy number gain	See cases	GBenign
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147904	GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GBenign
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 59749	GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Items: 26