49861[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 2357769	NM_001001346.3(CLDN20):c.115A>G (p.Asn39Asp)	CLDN20, TFB1M (N39D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355178	NM_001001346.3(CLDN20):c.137A>G (p.Gln46Arg)	CLDN20, TFB1M (Q46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284870	NM_001001346.3(CLDN20):c.145G>A (p.Gly49Arg)	CLDN20, TFB1M (G49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145489	NM_001001346.3(CLDN20):c.164C>T (p.Thr55Met)	CLDN20, TFB1M (T55M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455703	NM_001001346.3(CLDN20):c.239C>T (p.Ala80Val)	CLDN20, TFB1M (A80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267603	NM_001001346.3(CLDN20):c.358G>C (p.Ala120Pro)	CLDN20, TFB1M (A120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387440	NM_001001346.3(CLDN20):c.404C>T (p.Ser135Leu)	CLDN20, TFB1M (S135L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145490	NM_001001346.3(CLDN20):c.431T>C (p.Ile144Thr)	CLDN20, TFB1M (I144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494344	NM_001001346.3(CLDN20):c.455T>C (p.Val152Ala)	CLDN20, TFB1M (V152A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267602	NM_001001346.3(CLDN20):c.605T>C (p.Ile202Thr)	CLDN20, TFB1M (I202T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623520	NM_001001346.3(CLDN20):c.632C>A (p.Ser211Tyr)	CLDN20, TFB1M (S211Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517453	NM_001001346.3(CLDN20):c.644T>C (p.Leu215Pro)	CLDN20, TFB1M (L215P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527307	GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	CLDN20, CNKSR3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1340803	GRCh37/hg19 6q25.2-25.3(chr6:153584880-157203309)x1	ARID1B, CLDN20 +7 more	Copy number loss	not provided	GPathogenic
Select item 1047882	GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)	ARID1B, CLDN20 +6 more	Copy number loss	Corpus callosum, agenesis of +3 more	GPathogenic
Select item 687133	GRCh37/hg19 6q25.2-25.3(chr6:154648703-156904256)x1	CLDN20, CNKSR3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 685045	GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3	TIAM2, TMEM242 +10 more	Copy number gain	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38