ClinVar for Gene (Select 3060) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3104531	NM_001524.1(HCRT):c.376G>A (p.Gly126Arg)	HCRT (G126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104530	NM_001524.1(HCRT):c.359C>A (p.Ala120Asp)	HCRT (A120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104529	NM_001524.1(HCRT):c.334G>T (p.Gly112Trp)	HCRT (G112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 3052861	NM_001524.1(HCRT):c.342C>G (p.Arg114=)	HCRT	Single nucleotide variant (synonymous variant)	HCRT-related disorder	GLikely benign
Select item 3051921	NM_001524.1(HCRT):c.203A>G (p.Lys68Arg)	HCRT (K68R)	Single nucleotide variant (missense variant)	HCRT-related disorder	GLikely benign
Select item 3047255	NM_001524.1(HCRT):c.47TGC[8] (p.Leu22_Pro23insLeu)	HCRT	Microsatellite	HCRT-related disorder	GLikely benign
Select item 3033355	NM_001524.1(HCRT):c.303A>T (p.Ala101=)	HCRT	Single nucleotide variant (synonymous variant)	HCRT-related disorder	GLikely benign
Select item 2569149	NM_001524.1(HCRT):c.323G>A (p.Arg108His)	HCRT (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556272	NM_001524.1(HCRT):c.70C>T (p.Pro24Ser)	HCRT (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411257	NM_001524.1(HCRT):c.344G>A (p.Cys115Tyr)	HCRT (C115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362198	NM_001524.1(HCRT):c.326C>T (p.Pro109Leu)	HCRT (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261332	NM_001524.1(HCRT):c.196C>A (p.Leu66Met)	HCRT (L66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335272	NM_001524.1(HCRT):c.367G>A (p.Val123Ile)	HCRT (V123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 7303	NM_001524.1(HCRT):c.47T>G (p.Leu16Arg)	HCRT (L16R)	Single nucleotide variant (missense variant)	Narcolepsy 1	GPathogenic

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Links from Gene

Items: 21