ClinVar for Gene (Select 28978) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326809	NM_014051.4(TMEM14A):c.283G>C (p.Val95Leu)	TMEM14A (V95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178853	NM_014051.4(TMEM14A):c.37A>T (p.Thr13Ser)	TMEM14A (T13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178852	NM_014051.4(TMEM14A):c.196A>G (p.Ile66Val)	TMEM14A (I66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2615239	NM_014051.4(TMEM14A):c.284T>G (p.Val95Gly)	TMEM14A (V95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569739	NM_014051.4(TMEM14A):c.209G>A (p.Arg70Lys)	TMEM14A (R70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278266	NM_014051.4(TMEM14A):c.271A>T (p.Ile91Phe)	TMEM14A (I91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251908	NM_014051.4(TMEM14A):c.34G>A (p.Val12Met)	TMEM14A (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246357	NM_014051.4(TMEM14A):c.251C>T (p.Ala84Val)	TMEM14A (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233323	NM_014051.4(TMEM14A):c.121T>A (p.Tyr41Asn)	TMEM14A (Y41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207089	NM_014051.4(TMEM14A):c.134G>A (p.Arg45His)	TMEM14A (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340051	GRCh37/hg19 6p12.2(chr6:52238224-52541279)x3	EFHC1, PAQR8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1042479	NC_000006.11:g.(?_51930764)_(52906034_?)del	CILK1, EFHC1 +15 more	Deletion	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 684882	GRCh37/hg19 6p12.2(chr6:52536197-52571385)x1	TMEM14A	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 147421	GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1	EFHC1, IL17A +58 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 23