21916[HGNC] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 150592	GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	ADCYAP1R1, AQP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 3126623	NM_032222.3(MINDY4):c.62A>G (p.Lys21Arg)	INMT-MINDY4, LOC113748388 +1 more (K21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459292	NM_032222.3(MINDY4):c.100C>T (p.Arg34Cys)	INMT-MINDY4, MINDY4 (R34C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126592	NM_032222.3(MINDY4):c.106C>T (p.Arg36Cys)	INMT-MINDY4, MINDY4 (R36C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126596	NM_032222.3(MINDY4):c.136G>T (p.Asp46Tyr)	INMT-MINDY4, MINDY4 (D46Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2657374	NM_032222.3(MINDY4):c.144A>G (p.Arg48=)	INMT-MINDY4, MINDY4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3126609	NM_032222.3(MINDY4):c.190G>A (p.Glu64Lys)	INMT-MINDY4, MINDY4 (E64K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547304	NM_032222.3(MINDY4):c.190G>C (p.Glu64Gln)	INMT-MINDY4, MINDY4 (E64Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470113	NM_032222.3(MINDY4):c.292C>A (p.Leu98Ile)	INMT-MINDY4, MINDY4 (L98I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463650	NM_032222.3(MINDY4):c.305A>G (p.Lys102Arg)	INMT-MINDY4, MINDY4 (K102R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126618	NM_032222.3(MINDY4):c.340A>T (p.Thr114Ser)	INMT-MINDY4, MINDY4 (T114S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126619	NM_032222.3(MINDY4):c.422A>G (p.His141Arg)	INMT-MINDY4, MINDY4 (H141R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126620	NM_032222.3(MINDY4):c.476C>T (p.Pro159Leu)	INMT-MINDY4, MINDY4 (P159L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126621	NM_032222.3(MINDY4):c.545T>C (p.Ile182Thr)	INMT-MINDY4, MINDY4 (I182T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3126622	NM_032222.3(MINDY4):c.554T>G (p.Leu185Arg)	INMT-MINDY4, MINDY4 (L185R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126624	NM_032222.3(MINDY4):c.682T>C (p.Tyr228His)	INMT-MINDY4, MINDY4 (Y228H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2596884	NM_032222.3(MINDY4):c.683A>G (p.Tyr228Cys)	INMT-MINDY4, MINDY4 (Y228C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126625	NM_032222.3(MINDY4):c.686T>C (p.Leu229Pro)	INMT-MINDY4, MINDY4 (L229P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126626	NM_032222.3(MINDY4):c.691C>T (p.Arg231Trp)	INMT-MINDY4, MINDY4 (R231W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126627	NM_032222.3(MINDY4):c.742G>A (p.Val248Ile)	INMT-MINDY4, MINDY4 (V248I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126629	NM_032222.3(MINDY4):c.752T>G (p.Leu251Arg)	INMT-MINDY4, MINDY4 (L251R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126628	NM_032222.3(MINDY4):c.752T>C (p.Leu251Pro)	INMT-MINDY4, MINDY4 (L251P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604657	NM_032222.3(MINDY4):c.757G>T (p.Val253Phe)	INMT-MINDY4, MINDY4 (V253F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126630	NM_032222.3(MINDY4):c.785C>G (p.Ser262Trp)	INMT-MINDY4, MINDY4 (S262W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126631	NM_032222.3(MINDY4):c.787A>G (p.Ser263Gly)	INMT-MINDY4, MINDY4 (S263G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126632	NM_032222.3(MINDY4):c.818G>A (p.Gly273Asp)	INMT-MINDY4, MINDY4 (G273D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126633	NM_032222.3(MINDY4):c.929C>G (p.Ser310Cys)	INMT-MINDY4, MINDY4 (S310C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126590	NM_032222.3(MINDY4):c.1012A>G (p.Met338Val)	INMT-MINDY4, MINDY4 (M338V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2620963	NM_032222.3(MINDY4):c.1043A>G (p.Lys348Arg)	INMT-MINDY4, MINDY4 (K348R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126591	NM_032222.3(MINDY4):c.1045C>T (p.Arg349Trp)	INMT-MINDY4, MINDY4 (R349W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2526288	NM_032222.3(MINDY4):c.1091C>T (p.Pro364Leu)	INMT-MINDY4, MINDY4 (P364L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126593	NM_032222.3(MINDY4):c.1109G>A (p.Gly370Asp)	INMT-MINDY4, MINDY4 (G370D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3126594	NM_032222.3(MINDY4):c.1175C>G (p.Ser392Trp)	INMT-MINDY4, MINDY4 (S392W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126595	NM_032222.3(MINDY4):c.1340G>A (p.Gly447Asp)	INMT-MINDY4, MINDY4 (G447D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2607288	NM_032222.3(MINDY4):c.1421G>A (p.Gly474Glu)	INMT-MINDY4, MINDY4 (G474E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126597	NM_032222.3(MINDY4):c.1433C>T (p.Ala478Val)	INMT-MINDY4, MINDY4 (A478V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126598	NM_032222.3(MINDY4):c.1456C>G (p.Pro486Ala)	INMT-MINDY4, MINDY4 (P486A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557106	NM_032222.3(MINDY4):c.1486G>A (p.Val496Ile)	INMT-MINDY4, MINDY4 (V496I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126599	NM_032222.3(MINDY4):c.1501G>A (p.Asp501Asn)	INMT-MINDY4, MINDY4 (D501N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126600	NM_032222.3(MINDY4):c.1514G>A (p.Arg505Gln)	INMT-MINDY4, MINDY4 (R505Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2476266	NM_032222.3(MINDY4):c.1516G>A (p.Ala506Thr)	INMT-MINDY4, MINDY4 (A506T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126601	NM_032222.3(MINDY4):c.1526G>A (p.Arg509Gln)	INMT-MINDY4, MINDY4 (R509Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126602	NM_032222.3(MINDY4):c.1553C>T (p.Ser518Leu)	INMT-MINDY4, MINDY4 (S518L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126603	NM_032222.3(MINDY4):c.1610C>A (p.Thr537Lys)	INMT-MINDY4, MINDY4 (T537K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467079	NM_032222.3(MINDY4):c.1616C>T (p.Thr539Met)	INMT-MINDY4, MINDY4 (T539M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2657375	NM_032222.3(MINDY4):c.1617G>A (p.Thr539=)	INMT-MINDY4, MINDY4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3126604	NM_032222.3(MINDY4):c.1693T>G (p.Tyr565Asp)	INMT-MINDY4, MINDY4 (Y565D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126605	NM_032222.3(MINDY4):c.1750C>T (p.Arg584Cys)	INMT-MINDY4, MINDY4 (R584C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126606	NM_032222.3(MINDY4):c.1826T>A (p.Leu609His)	INMT-MINDY4, MINDY4 (L609H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126607	NM_032222.3(MINDY4):c.1850A>G (p.Asn617Ser)	INMT-MINDY4, MINDY4 (N617S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461218	NM_032222.3(MINDY4):c.1859A>G (p.Asn620Ser)	INMT-MINDY4, MINDY4 (N620S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126608	NM_032222.3(MINDY4):c.1889G>A (p.Gly630Glu)	INMT-MINDY4, MINDY4 (G630E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126610	NM_032222.3(MINDY4):c.1912A>G (p.Ile638Val)	INMT-MINDY4, MINDY4 (I638V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462766	NM_032222.3(MINDY4):c.1930A>G (p.Ile644Val)	INMT-MINDY4, MINDY4 (I644V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3126611	NM_032222.3(MINDY4):c.1984C>G (p.Leu662Val)	INMT-MINDY4, MINDY4 (L662V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126612	NM_032222.3(MINDY4):c.2025G>C (p.Glu675Asp)	INMT-MINDY4, MINDY4 (E675D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126613	NM_032222.3(MINDY4):c.2048G>T (p.Ser683Ile)	INMT-MINDY4, MINDY4 (S683I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126614	NM_032222.3(MINDY4):c.2068C>T (p.Arg690Cys)	INMT-MINDY4, MINDY4 (R690C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616477	NM_032222.3(MINDY4):c.2068C>G (p.Arg690Gly)	INMT-MINDY4, MINDY4 (R690G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126615	NM_032222.3(MINDY4):c.2069G>A (p.Arg690His)	INMT-MINDY4, MINDY4 (R690H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126616	NM_032222.3(MINDY4):c.2161C>G (p.Gln721Glu)	INMT-MINDY4, MINDY4 (Q721E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126617	NM_032222.3(MINDY4):c.2182G>C (p.Asp728His)	INMT-MINDY4, MINDY4 (D728H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062970	GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1809067	GRCh37/hg19 7p14.3(chr7:30567050-31415774)x3	ADCYAP1R1, AQP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1680631	NC_000007.13:g.(?_30655492)_(31018859_?)dup	AQP1, CRHR2 +4 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1401428	NC_000007.13:g.(?_30054351)_(31018859_?)dup	AQP1, CRHR2 +10 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	GUncertain significance
Select item 979761	GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	GHRHR, GGCT +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 814952	GRCh37/hg19 7p14.3(chr7:30502942-30888964)x1	GARS1, CRHR2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687359	GRCh37/hg19 7p14.3(chr7:30688444-30814670)x1	CRHR2, INMT +1 more	Copy number loss	not provided	GUncertain significance
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 393728	GRCh37/hg19 7p14.3(chr7:30673441-31154672)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 93