ClinVar for Gene (Select 51272) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133749	NM_001098787.2(BET1L):c.55C>T (p.Arg19Trp)	BET1L (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133748	NM_001098787.2(BET1L):c.29C>T (p.Pro10Leu)	BET1L (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133747	NM_001098787.2(BET1L):c.218G>A (p.Arg73His)	BET1L (R73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641037	NM_001098787.2(BET1L):c.87C>T (p.Ala29=)	BET1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465049	NM_001098787.2(BET1L):c.277G>A (p.Val93Met)	BET1L (V93M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316518	NM_001098787.2(BET1L):c.229A>G (p.Met77Val)	BET1L (M77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315192	NM_001098787.2(BET1L):c.63C>G (p.Asn21Lys)	BET1L (N21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241681	NM_001098787.2(BET1L):c.322A>G (p.Arg108Gly)	BET1L (R108G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1230559	NM_001098787.2(BET1L):c.-59_-39dup	BET1L, LOC130005037	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic
Select item 393875	GRCh37/hg19 11p15.5(chr11:193842-475940)x3	ANO9, B4GALNT4 +15 more	Copy number gain	See cases	GLikely benign
Select item 253707	GRCh37/hg19 11p15.5(chr11:193142-299384)x3	RIC8A, PGGHG +7 more	Copy number gain	See cases	GUncertain significance
Select item 161085	GRCh38/hg38 11p15.5(chr11:196966-244236)x1	BET1L, CIMAP1A +8 more	Copy number loss	See cases	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 151347	GRCh38/hg38 11p15.5(chr11:200222-237805)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
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 144144	GRCh38/hg38 11p15.5(chr11:196966-244236)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 57951	GRCh38/hg38 11p15.5(chr11:196966-251588)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 23