10928[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 155208	GRCh38/hg38 12q14.1(chr12:58802649-59703763)x3	LINC02448, LOC100506869 +24 more	Copy number gain	See cases	GUncertain significance
Select item 149164	GRCh38/hg38 12q14.1(chr12:59353117-60085960)x1	LINC02448, LOC126861550 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3163134	NM_001270623.2(SLC16A7):c.40C>G (p.Pro14Ala)	SLC16A7 (P14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768560	NM_001270623.2(SLC16A7):c.105A>G (p.Ala35=)	SLC16A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2380429	NM_001270623.2(SLC16A7):c.148A>G (p.Ile50Val)	SLC16A7 (I50V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599779	NM_001270623.2(SLC16A7):c.250G>A (p.Gly84Ser)	SLC16A7 (G84S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277975	NM_001270623.2(SLC16A7):c.256C>T (p.Arg86Trp)	SLC16A7 (R86W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366778	NM_001270623.2(SLC16A7):c.257G>A (p.Arg86Gln)	SLC16A7 (R86Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163132	NM_001270623.2(SLC16A7):c.299T>C (p.Met100Thr)	SLC16A7 (M100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546841	NM_001270623.2(SLC16A7):c.301G>T (p.Val101Leu)	SLC16A7 (V101L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371464	NM_001270623.2(SLC16A7):c.314T>C (p.Phe105Ser)	SLC16A7 (F105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289418	NM_001270623.2(SLC16A7):c.331C>G (p.Gln111Glu)	SLC16A7 (Q111E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2316825	NM_001270623.2(SLC16A7):c.368G>T (p.Gly123Val)	SLC16A7 (G123V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163133	NM_001270623.2(SLC16A7):c.376T>C (p.Phe126Leu)	SLC16A7 (F126L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286269	NM_001270623.2(SLC16A7):c.494A>G (p.Asn165Ser)	SLC16A7 (N165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746430	NM_001270623.2(SLC16A7):c.510T>C (p.Asn170=)	SLC16A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3163135	NM_001270623.2(SLC16A7):c.568G>A (p.Val190Met)	SLC16A7 (V190M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768561	NM_001270623.2(SLC16A7):c.602A>G (p.Asn201Ser)	SLC16A7 (N201S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2408186	NM_001270623.2(SLC16A7):c.626A>G (p.Asn209Ser)	SLC16A7 (N209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163136	NM_001270623.2(SLC16A7):c.674C>T (p.Thr225Met)	SLC16A7 (T225M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264394	NM_001270623.2(SLC16A7):c.713A>G (p.Asp238Gly)	SLC16A7 (D238G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318951	NM_001270623.2(SLC16A7):c.788C>A (p.Ala263Asp)	SLC16A7 (A263D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529712	NM_001270623.2(SLC16A7):c.841T>A (p.Ser281Thr)	SLC16A7 (S281T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370129	NM_001270623.2(SLC16A7):c.895T>A (p.Ser299Thr)	SLC16A7 (S299T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370130	NM_001270623.2(SLC16A7):c.896C>T (p.Ser299Phe)	SLC16A7 (S299F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608753	NM_001270623.2(SLC16A7):c.906A>T (p.Leu302Phe)	SLC16A7 (L302F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318955	NM_001270623.2(SLC16A7):c.935G>A (p.Arg312Gln)	SLC16A7 (R312Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163137	NM_001270623.2(SLC16A7):c.941A>G (p.Gln314Arg)	SLC16A7 (Q314R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271553	NM_001270623.2(SLC16A7):c.1034T>A (p.Val345Glu)	SLC16A7 (V345E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609643	NM_001270623.2(SLC16A7):c.1099G>A (p.Gly367Ser)	SLC16A7 (G367S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208734	NM_001270623.2(SLC16A7):c.1123G>A (p.Val375Ile)	SLC16A7 (V375I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355141	NM_001270623.2(SLC16A7):c.1138A>C (p.Ile380Leu)	SLC16A7 (I380L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163127	NM_001270623.2(SLC16A7):c.1231G>T (p.Gly411Trp)	SLC16A7 (G411W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539004	NM_001270623.2(SLC16A7):c.1234G>A (p.Ala412Thr)	SLC16A7 (A412T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569825	NM_001270623.2(SLC16A7):c.1256T>C (p.Val419Ala)	SLC16A7 (V419A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163128	NM_001270623.2(SLC16A7):c.1268T>C (p.Ile423Thr)	SLC16A7 (I423T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163129	NM_001270623.2(SLC16A7):c.1297G>A (p.Ala433Thr)	SLC16A7 (A433T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250646	NM_001270623.2(SLC16A7):c.1361C>A (p.Ser454Tyr)	SLC16A7 (S454Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163130	NM_001270623.2(SLC16A7):c.1366C>G (p.His456Asp)	SLC16A7 (H456D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318954	NM_001270623.2(SLC16A7):c.1393T>G (p.Ser465Ala)	SLC16A7 (S465A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318952	NM_001270623.2(SLC16A7):c.1417G>A (p.Glu473Lys)	SLC16A7 (E473K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808515	GRCh37/hg19 12q14.1(chr12:59615966-61926383)x1	SLC16A7	Copy number loss	not provided	GUncertain significance
Select item 980440	GRCh37/hg19 12q14.1(chr12:59136522-62410625)x1	SLC16A7, LRIG3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815530	GRCh37/hg19 12q14.1(chr12:59659908-60004443)x3	SLC16A7	Copy number gain	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 563944	GRCh37/hg19 12q14.1(chr12:60173814-60610476)x3	SLC16A7	Copy number gain	not provided	GUncertain significance
Select item 563922	GRCh37/hg19 12q14.1(chr12:60161907-60415132)x1	SLC16A7	Copy number loss	not provided	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395032	GRCh37/hg19 12q14.1(chr12:59167152-60244566)x3	LRIG3, SLC16A7	Copy number gain	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54