"HDLBP-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047637	NM_005336.6(HDLBP):c.3591C>T (p.Tyr1197=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 742799	NM_005336.6(HDLBP):c.3531G>A (p.Thr1177=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition +1 more	GLikely benign
Select item 732315	NM_005336.6(HDLBP):c.3393C>T (p.Asp1131=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition +1 more	GLikely benign
Select item 3057037	NM_005336.6(HDLBP):c.3276C>T (p.Asp1092=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GBenign
Select item 2630847	NM_005336.6(HDLBP):c.3250G>A (p.Val1084Met)	ANO7, HDLBP (V1051M +1 more)	Single nucleotide variant (missense variant)	HDLBP-related condition	GUncertain significance
Select item 2631471	NM_005336.6(HDLBP):c.3155G>A (p.Ser1052Asn)	ANO7, HDLBP (S1019N +1 more)	Single nucleotide variant (missense variant)	HDLBP-related condition	GUncertain significance
Select item 3050928	NM_005336.6(HDLBP):c.3069C>T (p.Leu1023=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 3047044	NM_005336.6(HDLBP):c.2958C>T (p.Tyr986=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 3035706	NM_005336.6(HDLBP):c.2904+9C>T	ANO7, HDLBP	Single nucleotide variant (intron variant)	HDLBP-related condition	GBenign
Select item 3055900	NM_005336.6(HDLBP):c.2750-4C>G	ANO7, HDLBP	Single nucleotide variant (intron variant)	HDLBP-related condition	GBenign
Select item 3040754	NM_005336.6(HDLBP):c.2750-8C>T	ANO7, HDLBP	Single nucleotide variant (intron variant)	HDLBP-related condition	GLikely benign
Select item 3043399	NM_005336.6(HDLBP):c.2553C>T (p.Gly851=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 3059787	NM_005336.6(HDLBP):c.2493C>T (p.Gly831=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GBenign
Select item 791389	NM_005336.6(HDLBP):c.2391+9C>T	HDLBP, ANO7	Single nucleotide variant (intron variant)	HDLBP-related condition +1 more	GBenign
Select item 3039218	NM_005336.6(HDLBP):c.2262C>T (p.Arg754=)	ANO7, HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 729125	NM_005336.6(HDLBP):c.2198G>A (p.Arg733His)	ANO7, HDLBP (R700H +1 more)	Single nucleotide variant (missense variant)	HDLBP-related condition +1 more	GBenign
Select item 3038779	NM_005336.6(HDLBP):c.2106C>T (p.Ile702=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 753301	NM_005336.6(HDLBP):c.2049C>T (p.Cys683=)	HDLBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 784464	NM_005336.6(HDLBP):c.2010C>A (p.Gly670=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition +1 more	GLikely benign
Select item 778058	NM_005336.6(HDLBP):c.1389C>T (p.Asp463=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition +1 more	GBenign
Select item 3060902	NM_005336.6(HDLBP):c.1253A>G (p.Asn418Ser)	HDLBP (N385S +1 more)	Single nucleotide variant (missense variant)	HDLBP-related condition	GBenign
Select item 778823	NM_005336.6(HDLBP):c.1189-4G>A	HDLBP	Single nucleotide variant (intron variant)	HDLBP-related condition +1 more	GBenign/Likely benign
Select item 728940	NM_005336.6(HDLBP):c.1107C>T (p.Val369=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition +1 more	GBenign
Select item 3056287	NM_005336.6(HDLBP):c.1081-10A>G	HDLBP	Single nucleotide variant (intron variant)	HDLBP-related condition	GBenign
Select item 3047869	NM_005336.6(HDLBP):c.786C>T (p.Ser262=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 2628722	NM_005336.6(HDLBP):c.782C>T (p.Pro261Leu)	HDLBP (P261L +1 more)	Single nucleotide variant (missense variant)	HDLBP-related condition	GUncertain significance
Select item 3039207	NM_005336.6(HDLBP):c.762G>A (p.Thr254=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 791390	NM_005336.6(HDLBP):c.753G>C (p.Glu251Asp)	HDLBP (E251D +1 more)	Single nucleotide variant (missense variant)	HDLBP-related condition +1 more	GBenign
Select item 758781	NM_005336.6(HDLBP):c.738C>G (p.Gly246=)	HDLBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 711877	NM_005336.6(HDLBP):c.685G>A (p.Val229Ile)	HDLBP (V265I +1 more)	Single nucleotide variant (missense variant)	HDLBP-related condition +1 more	GLikely benign
Select item 3042691	NM_005336.6(HDLBP):c.570T>C (p.Asp190=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 3048378	NM_005336.6(HDLBP):c.15A>G (p.Ala5=)	HDLBP	Single nucleotide variant (synonymous variant)	HDLBP-related condition	GLikely benign
Select item 3044737	NM_005336.6(HDLBP):c.-16A>T	HDLBP	Single nucleotide variant (synonymous variant +1 more)	HDLBP-related condition	GLikely benign
Select item 3042020	NM_005336.6(HDLBP):c.-27G>A	HDLBP (G28R)	Single nucleotide variant (missense variant +1 more)	HDLBP-related condition	GLikely benign

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Items: 34