ClinVar for Gene (Select 338651) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289747	NM_001004325.2(KRTAP5-2):c.82T>C (p.Cys28Arg)	KRTAP5-2, KRTAP5-AS1 (C28R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3289746	NM_001004325.2(KRTAP5-2):c.155G>A (p.Cys52Tyr)	KRTAP5-2, KRTAP5-AS1 (C52Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3289745	NM_001004325.2(KRTAP5-2):c.478C>T (p.Pro160Ser)	KRTAP5-2, KRTAP5-AS1 (P160S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3289744	NM_001004325.2(KRTAP5-2):c.284A>G (p.Lys95Arg)	KRTAP5-2, KRTAP5-AS1 (K95R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3289736	NM_001005922.1(KRTAP5-1):c.319G>C (p.Gly107Arg)	KRTAP5-1, KRTAP5-AS1 (G107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289735	NM_001005922.1(KRTAP5-1):c.154G>A (p.Val52Met)	KRTAP5-1, KRTAP5-AS1 (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117102	NM_001004325.2(KRTAP5-2):c.522G>C (p.Gln174His)	KRTAP5-2, KRTAP5-AS1 (Q174H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117101	NM_001004325.2(KRTAP5-2):c.454T>G (p.Cys152Gly)	KRTAP5-2, KRTAP5-AS1 (C152G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117100	NM_001004325.2(KRTAP5-2):c.329C>T (p.Ser110Phe)	KRTAP5-2, KRTAP5-AS1 (S110F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117099	NM_001004325.2(KRTAP5-2):c.166T>C (p.Cys56Arg)	KRTAP5-2, KRTAP5-AS1 (C56R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117097	NM_001004325.2(KRTAP5-2):c.157G>A (p.Gly53Ser)	KRTAP5-2, KRTAP5-AS1 (G53S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117096	NM_001004325.2(KRTAP5-2):c.125G>T (p.Cys42Phe)	KRTAP5-2, KRTAP5-AS1 (C42F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117087	NM_001005922.1(KRTAP5-1):c.619G>A (p.Gly207Ser)	KRTAP5-1, KRTAP5-AS1 (G207S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117086	NM_001005922.1(KRTAP5-1):c.496G>T (p.Ala166Ser)	KRTAP5-1, KRTAP5-AS1 (A166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641347	NM_001005922.1(KRTAP5-1):c.57CGGCTGTGGGGGCTGTGGCTC[1] (p.17CGSGCGG[2])	KRTAP5-1, KRTAP5-AS1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2618640	NM_001005922.1(KRTAP5-1):c.229G>C (p.Gly77Arg)	KRTAP5-1, KRTAP5-AS1 (G77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614473	NM_001005922.1(KRTAP5-1):c.155T>G (p.Val52Gly)	KRTAP5-1, KRTAP5-AS1 (V52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612241	NM_001005922.1(KRTAP5-1):c.388T>C (p.Cys130Arg)	KRTAP5-1, KRTAP5-AS1 (C130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555967	NM_001005922.1(KRTAP5-1):c.47G>C (p.Gly16Ala)	KRTAP5-1, KRTAP5-AS1 (G16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543410	NM_001005922.1(KRTAP5-1):c.469T>C (p.Cys157Arg)	KRTAP5-1, KRTAP5-AS1 (C157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523420	NM_001005922.1(KRTAP5-1):c.575G>T (p.Gly192Val)	KRTAP5-1, KRTAP5-AS1 (G192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521291	NM_001004325.2(KRTAP5-2):c.332G>A (p.Cys111Tyr)	KRTAP5-2, KRTAP5-AS1 (C111Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480090	NM_001005922.1(KRTAP5-1):c.562G>A (p.Gly188Ser)	KRTAP5-1, KRTAP5-AS1 (G188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473580	NM_001004325.2(KRTAP5-2):c.451G>C (p.Val151Leu)	KRTAP5-2, KRTAP5-AS1 (V151L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2410811	NM_001005922.1(KRTAP5-1):c.64G>C (p.Gly22Arg)	KRTAP5-1, KRTAP5-AS1 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404336	NM_001005922.1(KRTAP5-1):c.691G>A (p.Gly231Arg)	KRTAP5-1, KRTAP5-AS1 (G231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385619	NM_001004325.2(KRTAP5-2):c.167G>C (p.Cys56Ser)	KRTAP5-2, KRTAP5-AS1 (C56S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379534	NM_001005922.1(KRTAP5-1):c.136G>A (p.Val46Ile)	KRTAP5-1, KRTAP5-AS1 (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367270	NM_001005922.1(KRTAP5-1):c.67G>A (p.Gly23Ser)	KRTAP5-1, KRTAP5-AS1 (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363037	NM_001005922.1(KRTAP5-1):c.655A>G (p.Ser219Gly)	KRTAP5-1, KRTAP5-AS1 (S219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350059	NM_001005922.1(KRTAP5-1):c.206G>A (p.Cys69Tyr)	KRTAP5-1, KRTAP5-AS1 (C69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344354	NM_001005922.1(KRTAP5-1):c.671C>T (p.Ala224Val)	KRTAP5-1, KRTAP5-AS1 (A224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343841	NM_001005922.1(KRTAP5-1):c.164G>A (p.Arg55His)	KRTAP5-1, KRTAP5-AS1 (R55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312058	NM_001004325.2(KRTAP5-2):c.451G>A (p.Val151Met)	KRTAP5-2, KRTAP5-AS1 (V151M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2292789	NM_001004325.2(KRTAP5-2):c.196G>A (p.Val66Met)	KRTAP5-2, KRTAP5-AS1 (V66M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2281517	NM_001005922.1(KRTAP5-1):c.263G>A (p.Gly88Asp)	KRTAP5-1, KRTAP5-AS1 (G88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259464	NM_001004325.2(KRTAP5-2):c.296G>T (p.Gly99Val)	KRTAP5-2, KRTAP5-AS1 (G99V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2230226	NM_001005922.1(KRTAP5-1):c.104G>A (p.Cys35Tyr)	KRTAP5-1, KRTAP5-AS1 (C35Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229907	NM_001005922.1(KRTAP5-1):c.364G>A (p.Gly122Ser)	KRTAP5-1, KRTAP5-AS1 (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222759	NM_001005922.1(KRTAP5-1):c.670G>A (p.Ala224Thr)	KRTAP5-1, KRTAP5-AS1 (A224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208843	NM_001004325.2(KRTAP5-2):c.269C>A (p.Ser90Tyr)	KRTAP5-2, KRTAP5-AS1 (S90Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206196	NM_001005922.1(KRTAP5-1):c.670G>T (p.Ala224Ser)	KRTAP5-1, KRTAP5-AS1 (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 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	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 53