Related gene-specific medical variations for Gene (Select 3069) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283743	NM_005336.6(HDLBP):c.2188G>T (p.Val730Phe)	ANO7, HDLBP (V730F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283739	NM_005336.6(HDLBP):c.3686G>T (p.Arg1229Leu)	ANO7, HDLBP (R1196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104739	NM_005336.6(HDLBP):c.3436C>T (p.Arg1146Cys)	ANO7, HDLBP (R1113C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104738	NM_005336.6(HDLBP):c.3236G>A (p.Arg1079Gln)	ANO7, HDLBP (R1079Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104737	NM_005336.6(HDLBP):c.2944G>T (p.Asp982Tyr)	ANO7, HDLBP (D982Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104736	NM_005336.6(HDLBP):c.2893G>A (p.Glu965Lys)	ANO7, HDLBP (E965K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104735	NM_005336.6(HDLBP):c.2867G>A (p.Arg956Gln)	ANO7, HDLBP (R923Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104734	NM_005336.6(HDLBP):c.2806G>C (p.Glu936Gln)	ANO7, HDLBP (E903Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104733	NM_005336.6(HDLBP):c.2607C>G (p.Asp869Glu)	ANO7, HDLBP (D869E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104732	NM_005336.6(HDLBP):c.2561A>G (p.Asp854Gly)	ANO7, HDLBP (D821G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104731	NM_005336.6(HDLBP):c.2383C>G (p.Gln795Glu)	ANO7, HDLBP (Q762E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104730	NM_005336.6(HDLBP):c.2243G>T (p.Gly748Val)	ANO7, HDLBP (G715V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059787	NM_005336.6(HDLBP):c.2493C>T (p.Gly831=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related disorder	GBenign
Select item 3057037	NM_005336.6(HDLBP):c.3276C>T (p.Asp1092=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related disorder	GBenign
Select item 3055900	NM_005336.6(HDLBP):c.2750-4C>G	ANO7, HDLBP	Single nucleotide variant (intron variant)	HDLBP-related disorder	GBenign
Select item 3050928	NM_005336.6(HDLBP):c.3069C>T (p.Leu1023=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related disorder	GLikely benign
Select item 3047637	NM_005336.6(HDLBP):c.3591C>T (p.Tyr1197=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related disorder	GLikely benign
Select item 3047044	NM_005336.6(HDLBP):c.2958C>T (p.Tyr986=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related disorder	GLikely benign
Select item 3043399	NM_005336.6(HDLBP):c.2553C>T (p.Gly851=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related disorder	GLikely benign
Select item 3040754	NM_005336.6(HDLBP):c.2750-8C>T	ANO7, HDLBP	Single nucleotide variant (intron variant)	HDLBP-related disorder	GLikely benign
Select item 3039218	NM_005336.6(HDLBP):c.2262C>T (p.Arg754=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related disorder	GLikely benign
Select item 3035706	NM_005336.6(HDLBP):c.2904+9C>T	ANO7, HDLBP	Single nucleotide variant (intron variant)	HDLBP-related disorder	GBenign
Select item 2689205	NM_005336.6(HDLBP):c.1174C>T (p.Gln392Ter)	HDLBP (Q359* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2689204	NM_005336.6(HDLBP):c.80C>A (p.Ala27Asp)	HDLBP (A27D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631471	NM_005336.6(HDLBP):c.3155G>A (p.Ser1052Asn)	HDLBP, ANO7 (S1019N +1 more)	Single nucleotide variant (missense variant)	HDLBP-related disorder	GUncertain significance
Select item 2630847	NM_005336.6(HDLBP):c.3250G>A (p.Val1084Met)	ANO7, HDLBP (V1051M +1 more)	Single nucleotide variant (missense variant)	HDLBP-related disorder	GUncertain significance
Select item 2607831	NM_005336.6(HDLBP):c.2785G>A (p.Asp929Asn)	ANO7, HDLBP (D896N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598632	NM_005336.6(HDLBP):c.2619G>C (p.Gln873His)	ANO7, HDLBP (Q873H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549222	NM_005336.6(HDLBP):c.2360A>G (p.Gln787Arg)	ANO7, HDLBP (Q754R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472015	NM_005336.6(HDLBP):c.2779A>C (p.Asn927His)	ANO7, HDLBP (N894H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461880	NM_005336.6(HDLBP):c.2330T>C (p.Ile777Thr)	ANO7, HDLBP (I777T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404356	NM_005336.6(HDLBP):c.2347G>A (p.Val783Ile)	ANO7, HDLBP (V750I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379232	NM_005336.6(HDLBP):c.3730A>G (p.Met1244Val)	ANO7, HDLBP (M1211V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347515	NM_005336.6(HDLBP):c.3070G>A (p.Ala1024Thr)	ANO7, HDLBP (A1024T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261541	NM_005336.6(HDLBP):c.3412G>A (p.Val1138Ile)	ANO7, HDLBP (V1105I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211423	NM_005336.6(HDLBP):c.2856C>G (p.Ile952Met)	ANO7, HDLBP (I952M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206166	NM_005336.6(HDLBP):c.2529G>C (p.Gln843His)	ANO7, HDLBP (Q810H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684793	NM_005336.6(HDLBP):c.3217G>A (p.Ala1073Thr)	ANO7, HDLBP (A1040T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791389	NM_005336.6(HDLBP):c.2391+9C>T	ANO7, HDLBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787250	NM_005336.6(HDLBP):c.2187T>C (p.Thr729=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742799	NM_005336.6(HDLBP):c.3531G>A (p.Thr1177=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732315	NM_005336.6(HDLBP):c.3393C>T (p.Asp1131=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729125	NM_005336.6(HDLBP):c.2198G>A (p.Arg733His)	HDLBP, ANO7 (R700H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689664	NM_005336.6(HDLBP):c.2470C>G (p.Arg824Gly)	ANO7, HDLBP (R791G +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance

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Links from Gene

Items: 44