6278[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 1712193	NC_000002.12:g.26692489CT[5]	KCNK3	Microsatellite	not provided	GLikely benign
Select item 2504974	NM_002246.3(KCNK3):c.-128G>C	KCNK3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1235279	NM_002246.3(KCNK3):c.-120G>T	KCNK3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3039976	NM_002246.3(KCNK3):c.-2C>A	KCNK3	Single nucleotide variant (5 prime UTR variant)	KCNK3-related disorder	GLikely benign
Select item 1524604	NM_002246.3(KCNK3):c.7del (p.Arg3fs)	KCNK3 (R3fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 474319	NM_002246.3(KCNK3):c.17T>C (p.Val6Ala)	KCNK3 (V6A)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 426049	NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys)	KCNK3 (T8K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GPathogenic
Select item 2973821	NM_002246.3(KCNK3):c.24G>C (p.Thr8=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GBenign
Select item 1018829	NM_002246.3(KCNK3):c.28G>A (p.Ala10Thr)	KCNK3 (A10T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1940468	NM_002246.3(KCNK3):c.29C>A (p.Ala10Glu)	KCNK3 (A10E)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1570038	NM_002246.3(KCNK3):c.39G>A (p.Val13=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2859865	NM_002246.3(KCNK3):c.40T>G (p.Cys14Gly)	KCNK3 (C14G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2282779	NM_002246.3(KCNK3):c.83C>T (p.Ala28Val)	KCNK3 (A28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1944611	NM_002246.3(KCNK3):c.93G>C (p.Ser31=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1100377	NM_002246.3(KCNK3):c.99C>G (p.Pro33=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 474316	NM_002246.3(KCNK3):c.100G>A (p.Glu34Lys)	KCNK3 (E34K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1714621	NM_002246.3(KCNK3):c.102G>T (p.Glu34Asp)	KCNK3 (E34D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2816226	NM_002246.3(KCNK3):c.108C>T (p.Ile36=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 794692	NM_002246.3(KCNK3):c.120G>A (p.Arg40=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2728109	NM_002246.3(KCNK3):c.133_147dup (p.Arg49_Ala50insGlnGlnGluLeuArg)	KCNK3	Duplication (inframe_insertion)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 751171	NM_002246.3(KCNK3):c.147G>A (p.Arg49=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 3287692	NM_002246.3(KCNK3):c.148G>A (p.Ala50Thr)	KCNK3 (A50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2767948	NM_002246.3(KCNK3):c.152G>T (p.Arg51Leu)	KCNK3 (R51L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1397431	NM_002246.3(KCNK3):c.167A>T (p.Gln56Leu)	KCNK3 (Q56L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 474318	NM_002246.3(KCNK3):c.172G>A (p.Gly58Ser)	KCNK3 (G58S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2067650	NM_002246.3(KCNK3):c.178G>C (p.Glu60Gln)	KCNK3 (E60Q)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 3287691	NM_002246.3(KCNK3):c.190C>G (p.Arg64Gly)	KCNK3 (R64G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2916087	NM_002246.3(KCNK3):c.202C>A (p.Arg68Ser)	KCNK3 (R68S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 962756	NM_002246.3(KCNK3):c.202C>T (p.Arg68Cys)	KCNK3 (R68C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2846283	NM_002246.3(KCNK3):c.213G>T (p.Pro71=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1939909	NM_002246.3(KCNK3):c.220G>T (p.Ala74Ser)	KCNK3 (A74S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1698316	NM_002246.3(KCNK3):c.244G>A (p.Gly82Ser)	KCNK3 (G82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 592111	NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup)	KCNK3	Duplication (inframe_insertion)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1622703	NM_002246.3(KCNK3):c.249C>T (p.Ser83=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1519940	NM_002246.3(KCNK3):c.254A>G (p.Tyr85Cys)	KCNK3 (Y85C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 811790	NM_002246.3(KCNK3):c.275C>T (p.Thr92Ile)	KCNK3 (T92I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1131244	NM_002246.3(KCNK3):c.279C>A (p.Thr93=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2876867	NM_002246.3(KCNK3):c.283+5C>T	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 658020	NM_002246.3(KCNK3):c.283+6G>T	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2041227	NM_002246.3(KCNK3):c.283+18G>C	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2065413	NM_002246.3(KCNK3):c.283+20G>A	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1280341	NM_002246.3(KCNK3):c.283+114C>G	KCNK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2032347	NM_002246.3(KCNK3):c.284-8del	KCNK3	Deletion (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1142666	NM_002246.3(KCNK3):c.284-9T>A	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 60480	NM_002246.3(KCNK3):c.289G>A (p.Gly97Arg)	KCNK3 (G97R)	Single nucleotide variant (missense variant)	KCNK3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1115152	NM_002246.3(KCNK3):c.294C>T (p.His98=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1598272	NM_002246.3(KCNK3):c.309G>A (p.Thr103=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1551604	NM_002246.3(KCNK3):c.309G>T (p.Thr103=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2239937	NM_002246.3(KCNK3):c.323T>G (p.Val108Gly)	KCNK3 (V108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1562191	NM_002246.3(KCNK3):c.324G>T (p.Val108=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2851228	NM_002246.3(KCNK3):c.330del (p.Phe109_Cys110insTer)	KCNK3	Deletion (nonsense)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1902810	NM_002246.3(KCNK3):c.342G>A (p.Ala114=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1566696	NM_002246.3(KCNK3):c.363G>A (p.Thr121=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 548009	NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro)	KCNK3 (L122P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GLikely pathogenic
Select item 474320	NM_002246.3(KCNK3):c.366C>T (p.Leu122=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1319206	NM_002246.3(KCNK3):c.386G>A (p.Gly129Asp)	KCNK3 (G129D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204367	NM_002246.3(KCNK3):c.398A>G (p.Asn133Ser)	KCNK3 (N133S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1168186	NM_002246.3(KCNK3):c.414C>T (p.Tyr138=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GBenign
Select item 474321	NM_002246.3(KCNK3):c.423C>A (p.His141Gln)	KCNK3 (H141Q)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4 +1 more	GLikely benign
Select item 1475267	NM_002246.3(KCNK3):c.425G>A (p.Arg142His)	KCNK3 (R142H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 756240	NM_002246.3(KCNK3):c.438G>T (p.Gly146=)	KCNK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631390	NM_002246.3(KCNK3):c.439C>T (p.Leu147=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2165573	NM_002246.3(KCNK3):c.448C>A (p.Arg150=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 704086	NM_002246.3(KCNK3):c.456C>T (p.Ala152=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1108318	NM_002246.3(KCNK3):c.459C>T (p.Asp153=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2429849	NM_002246.3(KCNK3):c.460G>A (p.Val154Met)	KCNK3 (V154M)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2889515	NM_002246.3(KCNK3):c.465C>T (p.Ser155=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1610642	NM_002246.3(KCNK3):c.480G>T (p.Val160=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1139649	NM_002246.3(KCNK3):c.483C>G (p.Leu161=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1084756	NM_002246.3(KCNK3):c.486C>T (p.Ile162=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1427737	NM_002246.3(KCNK3):c.488G>A (p.Gly163Asp)	KCNK3 (G163D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 718222	NM_002246.3(KCNK3):c.501C>T (p.Cys167=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2863539	NM_002246.3(KCNK3):c.504C>G (p.Ile168Met)	KCNK3 (I168M)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1085471	NM_002246.3(KCNK3):c.510G>A (p.Thr170=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1145842	NM_002246.3(KCNK3):c.531C>G (p.Ala177=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2744310	NM_002246.3(KCNK3):c.535T>C (p.Ser179Pro)	KCNK3 (S179P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 813010	NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln)	KCNK3 (E182Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 60482	NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys)	KCNK3 (E182K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 578932	NM_002246.3(KCNK3):c.547C>T (p.His183Tyr)	KCNK3 (H183Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1962227	NM_002246.3(KCNK3):c.567C>T (p.Ala189=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1706629	NM_002246.3(KCNK3):c.571_573delinsCAA (p.Tyr191Gln)	KCNK3 (Y191Q)	Indel (missense variant)	Pulmonary arterial hypertension	GUncertain significance
Select item 60483	NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys)	KCNK3 (Y192C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GPathogenic
Select item 1107987	NM_002246.3(KCNK3):c.579C>T (p.Cys193=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2446440	NM_002246.3(KCNK3):c.607G>C (p.Gly203Arg)	KCNK3 (G203R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GPathogenic
Select item 60479	NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp)	KCNK3 (G203D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4 +1 more	GPathogenic
Select item 2084560	NM_002246.3(KCNK3):c.610G>A (p.Asp204Asn)	KCNK3 (D204N)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 648112	NM_002246.3(KCNK3):c.618G>A (p.Val206=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GConflicting classifications of pathogenicity
Select item 1116510	NM_002246.3(KCNK3):c.621G>A (p.Ala207=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2429850	NM_002246.3(KCNK3):c.632A>G (p.Asp211Gly)	KCNK3 (D211G)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1127338	NM_002246.3(KCNK3):c.636G>A (p.Gln212=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1956684	NM_002246.3(KCNK3):c.640C>T (p.Leu214=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 580894	NM_002246.3(KCNK3):c.646_651dup (p.Thr216_Gln217dup)	KCNK3	Duplication (inframe_insertion)	Pulmonary hypertension, primary, 4	GUncertain significance

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